Spinal muscular atrophy (SMA) is a genetic disorder within the MND spectrum of neurodegenerative and motor neuron diseases. It is characterized by degeneration of alpha motor neurons in the spinal cord, affecting the control of voluntary muscle movements. The disease is characterized by An autosomal recessive disorder, SMA affects 1 in 6-10,000 births, with a carrier frequency of 1 in 35-70 . The classification of SMA types depends on the age of onset and the highest level of motor function achieved 
Clinically Relevant Anatomy
SMA is caused by a deficiency of a motor neuron protein called SMN (survival motor neuron). Deficiency of this protein, which is essential for normal motor function, is caused by a genetic defect on chromosome 5 in the gene SMN1. Adjacent SMN2 gene can compensate partial function of SMN1 This is where some pharmaceutical companies are trying to develop a drug that can enhance the action of SMN2.
Spinal muscular atrophy is an autosomal recessive disorder caused in most cases by homozygous deletion of the SMN1 gene . This means that both parents of an affected individual are only carriers of the affected gene. Therefore, they do not experience any symptoms of disease, and This is why it is difficult for SMA to foresee and apply preventive measures.
Clinical Presentation and Classification
Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder of childhood. People affected by the mildest forms of SMA have proximal weakness and difficulty walking. In addition, fatigue, a symptom present in almost all cases of SMA, may also lead to impaired function and endurance. Current research in this field shows a good correlation between upper and lower extremity functions in patients with the disease. There are several types of SMA, which vary in age of onset and may exhibit different phenotypes .
Types of SMA
- Type I SMA (Werdnig-Hoffmann disease) – affects infants less than six months old and is the most serious type of disease. Sitting without support may never be achieved. Presence of severe hypotonic symmetric flaccid paralysis, loss of head control, poor voluntary movement, reduced The anti-gravity movement of the limbs.
- SMA type II – develops in babies 7 to 18 months old. This type is less severe than type I, and most children survive to adulthood and live long, fulfilling lives. May sit without support, but may not be able to walk independently. Joint contractures and kyphosis Accompanied by fine tremors in the upper extremities are very common.
- SMA type III (Kugelberg-Welander disease) – appears after 18 months of age and is the least severe type affecting children. SMA type III is further divided into two subcategories: SMA IIIa and SMA IIIb – based on when the first symptoms of the condition appeared (if before or after 3 years).
- Type IV SMA – People with this type of SMA are diagnosed in adulthood and they have only mild problems.
Diagnosis can be made by prenatal screening or genomic survey and/or muscle biopsy. In the early stages, the diagnosis may be suspected due to symptoms such as weakness and muscle weakness. Children with SMA Type I may lack head control, with little to no anti-gravity Exercise and serious respiratory complications.
The first step in diagnosing someone with SMA is a thorough clinical examination and family history. Blood tests may be needed to look at the amount of creatine kinase (CK) and an investigation to indicate whether muscle damage has occurred. High levels of CK in the blood do not cause harm itself, but it is an important indicator of muscle disease status. If the EMG is suggestive of motor neuron disease, electrophysiological tests such as electromyography (EMG) and nerve conduction studies should be done, and then further testing should be done.
Further investigation may include genetic testing, as this is the most accurate way to diagnose whether a patient has SMA.
- Duchenne Muscular Dystrophy
- Amyotrophic Lateral Sclerosis
- congenital myotonic dystrophy,
- congenital myasthenic syndromes,
- metabolic myopathies
Congenital disorders of motor neurons and peripheral nerves (congenital myelinating neuropathy).
- Prader-Willi syndrome,
- acute hypoxic ischemic encephalopathy,
- neonatal sepsis and
- dyskinetic or metabolic conditions
Tools that can address these differential diagnostic possibilities, in addition to clinical examination and careful family history, are CK assays EMG/brain muscle biopsy for nerve conduction studies MRI and specific genetic or metabolic testing.
There are several outcome measures that can be used to detect changes in the natural history of SMA patients. These tools should be selected appropriately according to the age and severity of the disease.
- Six Minute Walk Test (6MWT) – The Six Minute Walk Test can be safely administered to people with SMA. It has been shown to detect fatigue-related changes in this population and also correlates with other established outcome measures in patients with myelopathy Atrophy .
- SMA Revised Hammersmith Scale (RHS) – The RHS is used primarily in patients with types 2 and 3 SMA. Combined with WHO motor milestones, this scale can be more sensitive to describe the SMA phenotype. RHS is designed to capture a wide range of capabilities A wide range of SMAs from toddlers to adolescents and adults .
- WHO Developmental Milestones – The WHO scale is designed to link a child’s growth and motor development in a single reference. The final version of the protocol included six items: unsupported sitting, hands and knees crawling, assisted standing, assisted walking, independent standing and walk alone. The WHO provides important information on gross motor development in children in different cultures .
- Revised Upper Limb Module (RULM) for SMA – The RULM is an outcome measure specifically designed to measure upper limb function in patients with spinal muscular atrophy. The scale has shown good reliability and validity, making it a good choice for assessing arm function in children and adults with physical impairments. moving average .
Management / Interventions
Spinal muscular atrophy (SMA) is a serious genetic disorder that requires precise diagnosis and extensive physical therapy to protect the muscles from rapid deterioration and the development of contractures. SMA must be managed as part of a broad multidisciplinary team These should include rehabilitation spinal management orthopedic nutrition and gastrointestinal management.
Recently, it has been said that SMA may be a multi-organ disease and needs to be checked in more detail. Further recommendations have been made regarding the pulmonary management and acute care of severe forms of SMA .
- Neuroprotective Drugs like riluzole,
- Drugs to improve energy metabolism and
- Drugs that affect SMN gene expression
With advances in medical management, gene therapy approaches for SMA using viral vectors to replace the SMN1 gene have been evaluated .
Stem cell therapy: a cell replacement strategy for the treatment of SMA . However, this therapy is still in the testing phase.
Cell replacement can be achieved by:
- Transplantation of in vitro matured stem cell-derived cells
- Activation of endogenous stem cells in the central nervous system
- It is important to evaluate patients with neuromuscular disorders, especially SMA. Viewing baseline functional joint range and strength will help the physical therapist track the progression of the condition.
- Management of contractures
- Exercise and activity
Many children and adults with SMA will be dependent on lung therapy due to loss of muscle function. When patients with SMA experience respiratory failure, they need to be switched to noninvasive positive pressure ventilation (NIV). in order to Respiratory Physiotherapists are optimally involved in the assessment and management of pulmonary complications .
Airway clearance (chest physiotherapy) is best combined with cough assistance and should be the primary airway-clearing therapy for all SMA patients with respiratory disease.
Suctioning is a key part of treatment and should be used in all patients with excessive secretions or an ineffective cough.
High-frequency chest wall oscillations (Vest) are another option for managing secretions. However, there is no evidence that vests improve airway clearance and secretions.
Non-invasive positive pressure ventilation (NIV) should be used in respiratory failure or to prevent deformation of the chest wall.
Continuous positive airway pressure (CPAP) should be used only when NIV cannot be tolerated or to treat chronic respiratory failure .
Practical Assessment and Treatment of Cervicogenic Headaches Ari Kaplan’s online course Learn more on this topic
Related Articles Revised Hammersmith Scale (RHS) for Spinal Muscular Atrophy – PhysiopediaObjective The Revised Hammersmith Scale (RHS) is an outcome measure specifically designed for individuals affected by Spinal Muscular Atrophy (SMA) . The Hammersmith Motor Function Scale (HFMS) is the first Outcome measures are designed to capture the physical capabilities of patients with SMA types 2 and 3 . An extended version of this scale was released for use in ambulance patients and was named the Hammersmith Functional Exercise Scale Extended (HFMSE) . In recent years, experts from all over the world The world of working with SMA patients collaborated to develop a better scale by using Rasch analysis. The new scale, called RHS, provides a more sensitive description of SMA phenotype and disease progression. Expected population[edit | edit source] RHS Developed for the assessment of broad motor function in patients with SMA. It detects the change from a very weak Type 2 SMA to a very strong Type 3 SMA. Some new drug approaches show big improvements on the weaker end of the spectrum, now even with children Type 1 people demonstrate sufficient skill to score on the scale. USAGE EDIT SOURCE] The RHS is an ordinal scale consisting of 33 items at levels 01 and 2. It scores a 2 for individuals who can complete the task without any compensation. for those A score of 1 was assigned for merely attempting to move or completing the exercise with some form of compensation, and a score of 0 was assigned for pain when the patient was unable to complete any part of the exercise. Evidence [edit | edit source] The revised Hammersmith scale has been tested on 138 subjects and it has been shown to be very All items. However, it should be noted that the scale was designed to capture a population with a wide range of physical abilities, including both ambulatory and non-ambulatory SMA patients. Reliability[edit | edit source] Reliability is reported as high Person With a separation index (PSI) of 0.98, the ceiling effect is minimal. Validity [edit | edit source] The RHS has been correlated with the WHO Motor Milestones, suggesting that the scale progressively captures more difficult motor abilities. Therefore, the scale is considered to have established concurrent validity. The RHS also demonstrated the validity of the differentiating groups by differentiating between the mobility status of the SMA type and the current WHO functional score. Link Edit Source] The published article, along with all related worksheets and supporting information, can be found here. Limb-girdle muscular dystrophy – PhysiopediaIntroduction Limb-girdle muscular dystrophy (LGMD) is not a single disease, but a group of rare, inherited genetic disorders characterized by progressive weakening of the shoulder and hip muscles. LGMD is defined as muscular dystrophy with predominantly preserved proximal weakness Facial extraocular muscles and distal extremity muscles (at least in the early stages of the disease . LGMD has an autosomal inheritance pattern that can be dominant or recessive in nature. Classification is alphanumeric, assigning the number ‘1’ or ‘2’ Depends on whether they are dominant or recessive. Letters are added in order of discovery. To date, more than 50 genetic loci have been identified. Dominantly inherited LGMD is less common, reportedly accounting for only 5–10% of all LGMDs.  The pattern of weakness can vary − Shoulder blade or distal weakness or respiratory failure. Summary of common types  LGMD1A (dystrophinopathy) – LGMD 1A myofibrillar myopathy associated with myostatin is allelic. Symptoms usually begin in adult life with mildly elevated CPK proteins. functions include respiration The same goes for failing cardiomyopathy and dysarthria. The semimembranosus is most affected in the hamstring group, while the semitendinosus is usually well preserved. LGMD1B (laminopathy) – Occurs between the first and fourth decades of life. With debilitating severe cardiomyopathy and Life-threatening cardiac arrhythmias may occur. The muscles most affected include the hip girdle. LGMD1C (foveolar lesions) – Symptoms begin in the first decade of life and include muscle tremors (induced with tendon hammer), proximal muscle weakness, and myalgia. LGMD1E 2R (tuberculosis) – Mutations in the DES gene (desmin is a structural protein) are strongly associated with myofibrillar myopathy and cardiomyopathy (dominant gene) and cardiac arrhythmias (dominant and recessive gene). Patients usually present in adult life. LGMD2A (Calpainosis) – This is the most common form of LGMD worldwide and usually occurs between the ages of 2-40. Respiratory impairment is common in later stages but is less severe than in LGMD associated with dystrophin-glycoprotein complexes. Patient showed no cardiac involvement and The muscles of the shoulder girdle and the back of the leg are most affected, with the sartorius and vastus medialis relatively uninvolved. LGMD2B (dysferlinopathy) – It is also one of the common types. Variable age of onset (usually second to third ten years of life) and progress is often slow. Cardiac involvement is rare. Dysferlin deficiency with more pronounced calf muscle involvement is also known as Miyoshi myopathy. The hamstrings and calves are usually affected. LGMD2C 2D 2E 2F (sarcoglycanosis) – four Types (2C 2D 2E 2F) are associated with specific sarcoglycan proteins missing γ α β δ, respectively. It resembles muscular dystrophy with severe progressive proximal muscle weakness. Onset varies from 4 to 7 years of age. respiratory failure and Common features of cardiomyopathy. LGMD2G (telethoninopathy) – rare and often occurs in adolescence. Diagnosis can be suggested by lack of telethonin expression in biopsies, often showing a dystrophic pattern. LGMD2I 2K 2M 2N 2O 2P 2T 2U (Dystrophic Glycanosis) – Dystroglycanopathies are caused by defects in the dystroglycan complex, primarily through abnormal glycosylation of α-dystroglycan. Dystroglycan is found in many tissues throughout the body and is essential for muscle cell function and membrane stability. The time of onset is usually between 1-4 years old. Respiratory failure, cardiomyopathy, myoglobinuria, and myalgia are commonly reported. Usually involves the hamstrings and calf triceps. LGMD2J (titinopathy) – caused by the involvement of the TTN gene. Serum CK can be highly elevated. Patients with mutations in the TTN gene may also develop distal Debilitating severe respiratory involvement and features of myofibrillar myopathy. It is difficult to diagnose. LGMD2L – Symptoms begin in the 30s and mainly affect men. Cardiac involvement is rare and serum CPK is highly elevated. Other LGMD subtypes – LGMD1D Both 1F and 1G are described in very small numbers, sometimes in single families. The age of presentation varies, but usually presents in adulthood with proximal muscle weakness. LGMD2H 2Q 2S 2V 2W is a very rare subtype of LGMD described in only a few cases, although LGMD2H is Frequently diagnosed in Hutterites due to co-founder mutations Clinically relevant anatomy [edit | edit source] LGMD is caused by multiple genes encoding proteins within the cytoplasm or nucleus of myocytes. The result of the defect is that the muscles do not form properly Certain proteins needed for normal muscle function. Several different proteins may be affected, and missing or defective specific proteins identify specific types of muscular dystrophy. Proteins affected in LGMD include alpha beta gamma and delta sarcoglycan. this Sarcoglycans are a family of transmembrane proteins (α β γ δ or ε) involved in protein complexes responsible for linking the muscle fiber cytoskeleton to the extracellular matrix, preventing damage to the muscle fiber sarcolemma by shear forces. this The dystrophin glycoprotein complex (DGC) is a transmembrane complex that connects the inner cytoskeleton to the extracellular matrix in muscle. The sarcoglycan complex is a subcomplex within the DGC composed of several muscle-specific transmembrane proteins, namely (α β γ δ or ε). Sarcoglycan is an asparagine-linked glycosylated protein with a single transmembrane domain.  Pathology edited source] It is likely that most LGMD subtypes will eventually develop membrane instability similar to muscular dystrophy, eventually leading to Degeneration of muscle fibers. High levels of intracellular calcium are associated with muscle cell damage, but the exact mechanism is unknown. Some theories suggest that the influx of calcium ions activates proteolysis, ultimately leading to myocyte apoptosis/necrosis. muscle damage The fibers lead to the release of inflammatory cytokines and a sequential dispatch of neutrophils and macrophages to degrade cellular debris. Muscle satellite cells (undifferentiated muscle cell progenitors) replace damaged or necrotic tissue. Ultimate muscle repair mechanisms and Satellite cell populations are overwhelmed and fibrotic (collagen) tissue and adipose tissue are deposited  Editorial source] General features include shoulder and hip girdle muscle weakness and atrophy. The onset of symptoms and the exact cause may vary According to different types. Muscle spasms and myalgia The most typical presentation is symmetrical weakness due to scapulohumeral-pelvic weakness, which may resemble the presentation of FSHD, but without the facial weakness. Muscle atrophy progresses slowly Intelligence and cognition usually normal Waddling gait – hip musculature weakness Gait dysfunction Foot drop Stiff scapular wing joints Contractures Frequent falls Difficulty walking longer distances Loss of ability to perform transfers Decreased stamina and tolerance to activities Difficulty climbing stairs and lifting heavy objects Inability to do overhead activities, progressive difficulty with self-care and movement Scoliosis/lordosis May have difficulty swallowing Hip muscle weakness may present with Gawer’s sign Pseudohypertrophy of calf muscles Cardiomyopathy Conduction Abnormal arrhythmia Late stage may involve dyspnea Respiratory insufficiency Diagnostic procedures [edit | edit source] The history and examination are critical at the first line of the investigative program and should be done thoroughly. it should include the age of appearance Symptoms of cardiomyopathy, or abnormal heart rhythm, muscle “heavy” or spinal stiffness. Serum CK levels Genetic investigation – DNA testing is the gold standard for LGMD Electrophysiology muscle imaging and muscle biopsy analysis (immunohistochemical staining and western blot analysis) MRI or CT Muscle and Skeletal Abnormality Detection Echocardiography/ECG Arrhythmias NCV and NCS (Nerve Conduction Velocity and Nerve Conduction Studies) Electromyography Holter Monitoring and Event Monitoring Pulmonary Function Test Results Measurements [Edit | Edit Source] Results Measures to quantify disease progression included: 6-minute walk test North Star Ambulatory Rating Scale Time required to climb four steps Time required to stand up from the floor Upper extremity performance. VAS (Visual Analog Scale) Manual Ability Measurement Action Research Arm Test Functionality Assessment Measures and Functional Independence Measures (FIM FAM) One of the limitations of these measures is that they address ambulance or non-ambulance patients (see Outcome Measures Database) Management [edit | edit source] Medical management [edit | edit source ] no specific Management protocol and management of LGMD syndrome is a case-based presentation. Active supportive treatment is essential. Heart involvement – Pacemaker placement can save lives. If involvement is known, the case should be referred to a cardiologist or surgeon. other Treatment options include anticoagulants, implantable defibrillators, and more. Respiratory symptoms – Treating respiratory insufficiency through early intervention of non-invasive ventilation can help improve function and prolong life expectancy of patients. Dysphagia and Nutrition – Nutrition Supplements or enteral feeding (gastrostomy tube). Skeletal Abnormalities – Abnormal posture due to muscle weakness can lead to later scoliosis/lordosis/kyphoscoliosis deformities that can be corrected with orthopedic procedures such as spinal decompression, spinal fusion, orthopedics. pain and Inflammation – corticosteroids may be given to delay disease progression. Physical therapy [edit | edit source] The goal of physical therapy is to prevent contractures and maximize function for as long as possible. Low-impact aerobic exercise for submaximal strength training is generally safe And good for overall health. Gentle, low-impact aerobic exercise to improve heart function and endurance (swimming and stationary bike or treadmill) Kicks Upper Body Exercises – Sitting Upright Scapular Retraction Neck Lateral Flexion Neck Retraction Shoulder Rotations Shoulder Resistance Exercises Wrist Movements Gentle Gripping Exercises Upper Body Range of Motion Exercises Different Goals Trunk Exercises – Assisted Sit-Ups Trunk Rotation Lateral Trunk Bend Picking Object from Floor Log Roll Quadriceps Hamstrings Piriformis Lateral Trunk Extension Hip Adductors and Abductors Gastrocnemius Hip Flexors Deltoids Biceps Brachii Triceps Finger Extensions. lower body exercises – Outreach Leg Quadruped Walking Donkey Kick Straight Leg Knee Raise Walk Quadruped Superman Low Intensity Squat Side Walk Toe Tapping Crab Walk Heel Raise Toe Raise Coordination Activities – Shuffle Thumb Opposites Perform Craft Picking Bead Writing Warning Signs – Excessive Muscle Soreness Prolonged Shortness of Breath Severe Muscle Cramps Heaviness In Extremities Feeling Weaker Instead Of Stronger Within 30 Minutes Of Exercise. Occupational Therapy [edit | Edit source] Occupational Therapy Contributes to Ergonomic Assessment and self-care activity modifications Home Assessment Adaptive Dressing eg. Dressing Sticks Sock Helpers Reach Mobility Modification – Stuff can be placed at a lower height or use a Reach Device Strengthening Large Groups of Muscles Mobility Exercises Energy Saving Technology Orthotics (Aids) [Edit | Edit Source] Arm Sling Waist Corset Lumbosacral Orthosis Hip Knee Ankle Foot Orthosis (HKAFO) Knee Ankle Foot Orthosis (KAFO) Spinal Support Wheelchair – Unpowered or Powered Gene Therapy[edit| Editorial source] Gene therapy and stem cell therapy can introduce genes Substances in cells help them function in normal ways. Stem cell therapy has shown promising results, and marked improvement can be seen with exercise  Differential diagnosis [edit | edit source] LGMD is a large heterogeneous group of disorders. differential diagnosis of these Diseases include – Duchenne muscular dystrophy and Beckers muscular dystrophy – more common than LGMD facioscapulohumeral dystrophy – the pattern of muscle weakness is variable. Spinal Muscular Atrophy (SMA) Types II & III – Genetic Testing Emery Dreifuss Muscular Dystrophy (EDMD) – Genetic Testing Pompe disease – deficient or reduced glucosidase activity Bethlem myopathy – skin changes and contracture-acquired muscle disorders due to collagen involvement (polymyositis dermatomyositis and inclusion body myositis) Resources [edit | edit source] Muscle atrophy Duchenne Muscular Malnutrition – Duchenne Gait Becker Muscular Dystrophy Case Study Duchenne Muscular Dystrophy – PhysiopediaIntroduction Duchenne Muscular Dystrophy (DMD) is a genetic disease that affects the muscles, causing muscle weakness. It is a serious disease that starts in early childhood. muscle Weaknesses are not apparent at birth, even if the child is born with the genes that cause them. This weakness develops gradually and is usually evident by the age of three. Symptoms are mild at first but can become more severe as the child gets older. The most common type of Duchenne muscular dystrophy is a More than 20 types of muscular dystrophy. The global incidence of DMD is 1 in 3500 male births , which means that in the UK alone there are around 2400 people with DMD . Types of Muscular Dystrophy Type Prevalence Common Symptoms Duchenne Muscular Dystrophy 1 At 3500 • Difficulty walking, running, or jumping • Difficulty standing • Learning to talk later than usual • Unable to climb stairs without support • May have behavioral or learning disabilities Facioscapulohumeral muscular dystrophy 1 in 7500 • Use eyes sleep Slightly open • Can’t close eyes tightly • Can’t purse lips Myotonic Dystrophy 1 in 8000 • Muscle stiffness • Cloudy eye lens • Excessive sleep or fatigue • Difficulty swallowing • Behavioral and learning disabilities • Slow and irregular heartbeat Becker muscular dystrophy varies from person to person; 1 in 18,000 – 1 in 31,000 • Learn to walk later • Muscle cramps during exercise Limb girdle muscular dystrophy estimated in 1 in 14,500 – 1 in 123,000 In the range of one • Weakness of the hip and thigh muscles and arms • Loss of muscle mass in these same areas • Back pain • Heart palpitations/arrhythmia Oculopharyngeal muscular dystrophy 1-9 in 100,000 • Usually doesn’t develop until age 50-60 • Drooping eyelids • Difficulty swallowing • Gradually restricted Eye movement Weakness in limbs, especially around shoulders and hips Emery-Dreifuss muscular dystrophy 1 in 100,000 Symptoms occur in childhood and adolescence • Muscle weakness • Difficulty climbing stairs • Easy tripping • Slow and irregular heartbeat All type of muscle Malnutrition is caused by a genetic defect (a genetic unit passed from parent to child) that results in progressive muscle weakness as muscle cells break down and are gradually lost. Duchenne dystrophy is an X-linked genetic disorder that primarily affects boys (with very few exceptions) and problems in this gene lead to defects in an important protein called dystrophin in muscle fibers. It is named after Dr. Duchenne de Boulogne, who worked in Paris in the mid-19th century and was one of the first to study muscular dystrophy. Clinically relevant anatomy [edit | edit source] Dystrophin is responsible for connecting the cytoskeleton of each muscle fiber to the underlying basal layer. The absence of dystrophin prevents calcium from entering the cell membrane, which affects the cell’s signaling. then the water enters Mitochondria that cause cell rupture. In a complex cascade involving multiple pathways, increased oxidative stress within cells disrupts the sarcolemma, leading to cell death. Muscle fibers die and are replaced by connective tissue. a bit Dystrophin is also produced in nerve cells (neurons) in specific parts of the brain, including the hippocampus. The hippocampus is the part of the brain involved in learning and memory, as well as emotion. Non-progressive memory and learning problems and social behavior problems in some people People with DMD are likely to be associated with a loss of dystrophin in neurons in the hippocampus and other parts of the brain, where dystrophin is normally produced in small amounts. However, research is ongoing to find out why only a minority of people with DMD are  Injury Mechanism/Pathological Process [Edit | Edit source] Histopathology of the gastrocnemius muscle in a patient who died of pseudohypertrophic muscular dystrophy Duchenne type. Muscle cross-sections show extensive replacement of muscle fiber DMD by adipocytes due to Mutations in the gene encoding the 427-kDa cytoskeletal protein dystrophin affect muscle. Dystrophin is deficient in the muscles of people with DMD. A deficiency of dystrophin leads to damage to muscle fibers and progressive weakening of muscles. Clinical manifestations[edit | edit Source] Muscle weakness occurs primarily in the “proximal” muscles, which are closer to the trunk of the body and around the hips and shoulders. Weakness usually begins proximally in the lower extremities and moves distally. Upper extremity weakness tends to develop late . This means that fine motor functions such as using the hands and fingers are less affected than activities such as walking. Symptoms usually begin around age 1-3 and may include: Difficulty walking, running, jumping, and climbing stairs. Walking may look different than “wobbling” type of walking. Boys may start walking later (although many children without DMD also start walking later). When you pick up your baby, you may feel as if he is “sliding through your hands” because the muscles around your shoulders relax. Toe Walking In this gait pattern, children walk Their toes are spread apart to help maintain balance with the increased curve of the lower back . Falls often. The calf muscles are not strong, but they look thick. As he gets older, the child may use his hands to help him stand up, making it appear as if he is “climbing up his legs.” this is Called “Gauer’s sign”. Some boys with DMD also have learning difficulties. Usually this is not serious. Sometimes developmental delay can be the first sign of DMD. Your child’s language development may also be delayed. Therefore, it is possible to provide stunted boys with DMD Screening Test. However, DMD is only one of the possible causes of developmental delay, and there are many other causes that are not related to DMD. Contractures are typical of DMD . It develops when normally elastic muscle fibers are replaced by hardened, inelastic fibers Organization . Contractures are considered a major cause of disability because they prevent normal movement.  In children with DMD, contractures often occur in the legs, especially the muscles around the calves and buttocks. Gradually enlarged heart    Diagnostic procedures[edit | edit source] The diagnosis may be suspected because of the child’s symptoms (above). When looking for signs of DMD, it is important to watch your child run and get up from the floor, as muscle weakness can be more pronounced during these activities. Gall’s sign is a very common physical finding People with Duchenne . It involves using their hands to “climb” their legs to stand up . This is due to weakness of the hip muscles in the child . Tests are required before diagnosing DMD. The first step in making a diagnosis is a blood test Test creatine kinase. Children with DMD have very high creatine kinase levels (approximately 10-100 times normal). Therefore, if the child’s creatine kinase levels are normal, DMD can be ruled out. If creatine kinase levels are high, further testing is needed to determine if it is due to DMD or to some other conditions. The next step in diagnosing DMD involves muscle biopsy and/or genetic testing: A muscle biopsy involves taking a small sample of muscle under local anesthesia. Examine the sample under a microscope using special techniques to see muscle fibers and Dystrophin. Genetic testing is done using a blood sample. A test is done on the DNA in the blood for the dystrophin gene. This test can diagnose most cases of DMD. Outcome measures editorial source] Outcome measures in DMD patients vary with disease progression disease. Outcome measures to quantify disease progression included: 6-minute walk test North Star Ambulatory Assessment Scale Time required to climb four steps Time required to stand up from the floor Upper extremity performance. One of the limitations of the above measures is that they target ambulatory or ambulatory patients . However, outcome measures change as the disease progresses, making it difficult to analyze patients using a single outcome measure. Research is underway to develop a unified measure of muscular dystrophy status. (see Outcome Measures database) management/intervention [edit | edit source] medical management [edit | edit source] Unfortunately, there is no cure for Duchenne disease, but there are ways that can help improve an individual’s quality of life and help with the stage they are in . Walking aids will be provided to Help your child be as independent as possible. These can include walking aids in the beginning stages and can progress to electric wheelchairs. Home lifts are useful for caregivers when they need help transferring children. Standing frames are also useful when the child can no longer stand their own. This helps the child reap the benefits of standing, such as increased bone density and stretched muscles, even if the child is unable to stand on his own . A knee-ankle-foot orthosis (KAFO) may also be used. KAFO has been found to prolong independent mobility in children . These should be used with walkers such as the zimmer framework . It is recommended to stay as active as possible, as muscle weakness can be made worse by bed rest . Steroids are commonly used in children with DMD and are the only palliative treatment . steroids have been proven Increases muscle strength and function in children . Steroids may help delay a child’s dependence on the wheelchair, but there may be side effects . Another group of drugs that has been shown to be helpful is the beta-blockers . heart and respiratory function The prevalence of these children has slowly declined, and these drugs are used to help address both problems . Some families may consider surgery for their children. Common surgeries for children with DMD include foot surgery to insert feeding tubes and spine surgery to correct scoliosis that may occur from dependence on wheelchairs . Many facts need to be considered before surgery, such as the effects of general anesthesia on the cardiac and respiratory system in children with DMD . Families need to weigh the pros and cons of surgery make a decision. For example, there is evidence that surgery to correct scoliosis improves respiratory function  and also improves children’s appearance and comfort.  Symptom-based active multidisciplinary team (MDT) management and access to non-invasive Ventilation improves survival into adulthood . For optimal management, a multidisciplinary care team that may be involved in care includes neurologists, cardiologists, orthopedists, pulmonologists, medical geneticists, physical therapists, and occupational therapists.  Men with DMD With proper management and intervention, it is now possible to live into your 30s and 40s. Preschool[edit | edit source] Usually the child is doing well at this stage and doesn’t need much treatment. Administrative Needs: Provide information about DMDs and patient support groups. Referrals Give a team of specialists (such as a pediatrician or neurologist, physiotherapist, and specialist nurse) to monitor the child’s health. Advice on the correct level of exercise. Genetic advice for families. Management for ages 5-8 [Edit | Edit source] Between ages 6-11 with a stable Muscle strength declines, and by age 12 most children are wheelchair bound . Children dependent on wheelchairs also experience other complications such as scoliosis and breathing problems . Through the night ankle, the leg and ankle may need some support Splint or knee ankle foot orthosis. There is no evidence of a significant benefit of any intervention for increasing ankle range of motion . Treatment with corticosteroids can help maintain your child’s muscle strength. This involves taking medication such as prednisolone or deflazacort as a long-term treatment of continuous or repeated courses. Management from age 8 to adolescence[edit | edit source] Sometime after age 8, the child’s leg muscles become markedly weaker. Walking gradually becomes difficult and requires a wheelchair need. The age at which this happens varies from person to person, but is usually around age 9-11. With corticosteroid treatment, some people with DMD can walk longer. In a randomized controlled trial  of children with Duchenne muscular dystrophy aged 6 to 10 years, cycling ergometer and treadmill Training in conjunction with a physical therapy program significantly improved functional walking ability (6-minute walk test) and balance (measured on the Biodex Stability System). The physical therapy treatment program includes gentle stretches and isometric muscle contractions (quadriceps, hamstrings Anterior tibialis calf muscles (biceps, triceps) gait and balance exercise training. In addition, the findings also found that treadmill training was effective in improving walking and balance on a bicycle ergometer in children with Duchenne muscular dystrophy.  Complications often begin Once a child becomes wheelchair dependent, it is important to monitor the child’s health and treat any complications early. Practical support and equipment will be required at this stage through the wheelchair and adapted to the child’s home and school. psychological counseling Support for children and families may also be helpful. Management in the late twenties [edit | edit source] At this stage, muscle weakness becomes more problematic. Increased help and adaptation measures for families and communities are needed. Complications such as chest infection are likely increase, thus requiring more medical monitoring and treatment. Physiotherapy management [edit | edit source] Physiotherapy is essential in the management of Duchenne disease. Physiotherapists work with parents and carers, providing them with useful information and manual skills for the kids. It’s important to monitor the physical symptoms of the condition, and physical therapy can help your child stay active for as long as possible. Contractures are one of the main side effects and can be resolved with regular stretching exercises. it can also teach parents . Physiotherapists advise parents of the need for orthotics such as AFO or KAFO and refer them to a pediatric orthotic practitioner . They will also help families choose the mobility aids and equipment their child may need. In the early stages of the condition, the physical therapist will Getting involved helps keep kids active. In later stages of the disease, respiratory problems resolve . The physical therapist monitors the child’s sitting and standing posture . They can inform parents how to help their children sit and lie optimally Where a pillow or splint is used. Sleep systems and night splints are recommended at night to help maintain the child’s posture for extended periods of time . Many physical therapists use the NorthStar outpatient assessment to objectively monitor a child’s progress. Launched in 2003, it is a tool specifically designed for children with DMD to allow them to perform up to 17 activities, including standing head-hopping and running . This evaluation is only for children who are still able to walk. Every child is standardized Given the same instructions and their ability to complete the task, the score is 0-2 . It is easy to administer and can be completed in approximately 10 minutes . These are useful when consulting with other doctors and evaluating your child’s medical condition. because DMD patients struggle with many daily activities. A physical therapist can help manage neuromusculoskeletal problems as they arise. They can help slow the deterioration of athletic muscle strength and daily function, Efforts have been made to improve gait patterns and pose/alignment . Physical therapy can also address pain that a patient may be experiencing. As the patient’s ability to walk and stand declines, the physical therapist may choose to implement a standing program . Pharmacology Editorial Source] at Chronic corticosteroid therapy for the mobile phase is an accepted practice. Glucocorticoids, a type of corticosteroid, are the standard treatment for patients with DMD. Steroid use has been shown to help improve muscle strength and function, delay loss of walking, and help maintain heart and respiratory function. Because it helps muscle strength, corticosteroids may also reduce the risk of scoliosis.  Some patients take steroids daily or every other day, and the treatment plan may vary. Different doses can also be taken. Like all medicines, there are side effects Effects that should be considered when treating patients. Examples of known side effects are: Cushing-like features Weight gain and growth inhibition Impaired fat and glucose metabolism Fluid retention and hypertension Osteoporosis, increased risk of vertebral fractures Cataract  Respiratory care [edit | edit source] Patients with DMD should have regular checkups of respiratory function. This allows doctors to monitor who may need help with assisted coughing and ventilation in the future. Evaluation of respiratory function includes: Spirometry of FVC FEV and maximal mid-expiratory flow Maximal inspiratory and expiratory pressure Peak cough flow Carbon dioxide levels should also be monitored  Airway clearance is important to prevent atelectasis and pneumonia. A variety of manual techniques are available in clinical practice to help Clear the victim’s airway. Manual-assisted coughing techniques are particularly useful in patients with low peak coughing flows (less than 160 L/min) due to inadequate airway self-clearing. Exhalation force can also be increased by applying pressure to the patient’s nasal passages Upper abdomen when coughing naturally. Other manual techniques include air-packed glossopharyngeal breathing and positive pressure application . In addition to manual techniques, mechanical techniques and mucus mobilization devices may also prove useful . Complications [edit | edit source] Anesthesiology [edit | edit source] People with DMD need to take extra care when administering general anesthesia. Certain narcotic medicines can cause harmful reactions in people with DMD. Extra attention to the chest and breathing is also required. It is important to perform a preoperative assessment and An advanced anesthetist who provides anesthesia care. Osteoporosis [edit | edit source] People with DMD may develop osteoporosis due to inactivity and steroid treatment. It is important to prevent osteoporosis for as long as possible. Getting plenty of vitamin D and calcium can help. sometimes a A blood test to check vitamin D levels is recommended, and vitamin D supplements may be offered. Joint and spinal complications [edit | edit source] Muscle weakness can lead to joint contractures. In DMD, it is usually the ankle joint and Achilles tendon that become tight. this can be cured Use orthotics or surgery to loosen the tendon. Scoliosis can occur due to muscle weakness. Usually this occurs at the beginning of the second decade after the patient loses the ability to walk . Scoliosis can cause discomfort and impair posture and breathing. A sort of Spinal braces or spinal surgery are recommended interventions. Surgery has been shown to improve function and quality of life . Surgery should be performed before the patient still has adequate lung function and cardiomyopathy becomes a major risk factor Anesthesia  Nutrition and digestion [edit | edit source] Some children with DMD are prone to being overweight, especially when receiving steroids. Adolescents and adults with DMD may also be underweight due to decreased muscle mass. In these cases, dietary advice may be helpful. constipate This can be a symptom in anyone who is immobile. This can be treated with laxatives and a high-fiber diet. In later stages of DMD (young adults and older adults), people with DMD may have difficulty chewing and swallowing food. These individuals require careful evaluation and nutritional advice or supplements. If the problem is severe, a gastrostomy may be required. Chest and respiratory complications [edit | edit source] In the teens, the respiratory muscles become weak, leading to shallow breathing and poor coughing mechanisms, which can lead to chest infections. all individuals Patients with DMD develop restrictive lung disease . Clearance techniques and noninvasive ventilation may help. As the breathing muscles weaken, the amount of oxygen in the blood may decrease. Reduced oxygen levels are even more so during sleep. because it is gradually developed Symptoms may not be obvious. Possible symptoms of low oxygen are tiredness, irritability, morning headaches, night waking and vivid dreams. Before the age of ten, lung capacity will increase like a normal person. After the age of ten, people’s lung capacity will decline About 8-12% per year. Finding and treating breathing problems early can be helpful. Once people with DMD start to experience significant muscle weakness, they typically undergo regular lung function tests. Cardiac (heart) complications [edit | edit source] adolescents and adults People with DMD may develop cardiomyopathy. Cardiomyopathy usually develops around the age of 10, and by the age of 18, all patients with DMD will develop cardiomyopathy . In dilated cardiomyopathy, the heart has a hard time pumping blood around the body because the chambers have become Enlargement and thinning of the heart wall . DMD cardiomyopathy usually does not cause many symptoms. Possible symptoms are tiredness, swollen legs, shortness of breath, or an irregular heartbeat. Drug therapy can help cardiomyopathy, and works best if started Early stage before symptoms become apparent. Therefore, people with DMD are often offered regular heart exams, including an EKG starting in early childhood. Differential DiagnosisEdit source] The differential diagnosis of DMD involves other types of muscular dystrophies—particularly Baker’s muscular dystrophy is similar but progresses more slowly. Age of onset is usually later and clinical involvement is milder. Muscle biopsy can be used as a standard to distinguish Baker’s and Duchenne’s dystrophy. In other myopathies, creatinine kinase levels are Usually lower than DMD. The diagnosis is confirmed by DNA analysis identifying deletions or mutations in the genes of interest. Polymyositis – Diagnosis is based on characteristic muscle biopsy findings of inflammation, including CD8 mononuclear cell infiltration of non-necrotizing muscle Cytotoxic/suppressor T cell macrophages and dermatomyositis without perifascicular atrophy. Usually polymyositis affects the proximal and limb-girdle muscles. Neurologic causes of muscle weakness – eg spinal cord injury spinal muscular atrophy motor neuron disease multiple sclerosis. These The condition may have other features, such as sensory loss, signs of upper motor neuron damage, or muscle fasciculations. Increases transaminases (aspartate aminotransferase and alanine aminotransferase produced by muscle and liver cells). The diagnosis of DMD should therefore be Any boy with elevated transaminases should be considered before liver biopsy . Resources [Edit | Edit Source] Diagnosis and Treatment of Duchenne Muscular Dystrophy Part 1: Diagnosis and Pharmacological and Psychosocial Management Diagnosis and Treatment of Duchenne Muscular Dystrophy Part 2: Implementing Multidisciplinary Care Case Study Becker Muscular Dystrophy – PhysiopediaIntroduction Becker Muscular Dystrophy (BMD) – A form of X-linked muscular dystrophy that exhibits the same pattern of muscle involvement as Duchenne Muscular Dystrophy (DMD), but with More Most cases of BMD present with a slowly progressive clinical course and walking impairment by about age 37 Clinically Relevant Anatomy[Edit | Edit Source] Dystrophin is responsible for connecting the cytoskeleton of each muscle fiber to the underlying basal layer. Deficiency of dystrophin Blocking calcium entry into cell membranes affects cell signaling Water entry into mitochondria causes cells to rupture. In a complex cascade involving multiple pathways, increased intracellular oxidative stress disrupts the sarcolemma, leading to cell death Cells and muscle fibers die and are replaced by connective tissue. Although a reassessment of the hypothesis that loss of basal-cytoskeletal connectivity is a major factor in muscular dystrophy is supported by the discovery of nitric oxide synthase (NOS) Signaling molecules require an intact dystrophin complex to bind to the sarcolemma, and some limb-girdle muscular dystrophy (LGMD) have been described due to reduced sarcoglycan complexes, whereas dystrophin at the sarcolemma Protein complexes are not damaged.  Pathological process |Editorial Source] BMD is a recessive X-linked muscular dystrophy. Clinical variation in BMD patients is due to differences in dystrophin mutations caused by exon deletions . The defect is a mutation in a protein called dystrophin located on chromosome Xp21.2, which can be inherited as X-linked recessive traits. Patients without a clear X-linked inheritance pattern may have defects in other genes affecting the dystrophin-related glycoprotein . Dystrophin levels in BMD are typically 30-80% of normal, whereas levels in DMD are below 5% .  Clinical Introduction [edit | edit source] Delayed developmental motor milestones may be the first observations of parents. Clumsiness Frequent falls Difficulty getting up from the floor May present Gowers sign (nonspecific) Subclinical cases may develop later in life; dilated cardiomyopathy may be the first BMD logo. Contractures Weakness may be limited to specific proximal muscles Preservation of neck flexor strength may be present Staggering gait in severe cases Differential diagnosis [edit | edit source] Duchenne muscular dystrophy: More severe and earlier than BMD. Prognosis is not OK. Polymyositis: Absence of distal pseudohypertrophy helps differentiate it from BMD. Spinal Muscular Atrophy: Deletion of a dystrophin gene mutation in a DNA probe leads to spinal muscular atrophy as an alternative diagnosis.  Limb-girdle muscular dystrophy: This condition is hard Distinguished from BMD; however, calf muscle pseudohypertrophy was absent.  Dilated cardiomyopathy: Cardiomyopathy is one of the most serious complications and the leading cause of death in malnourished patients. However, dilated cardiomyopathy can have a different genetic etiology or Causes other than muscular dystrophy.  Emery-Dreifuss muscular dystrophy: Early contractures and heart defects help differentiate it from BMD.  Myasthenia gravis: Fluctuating skeletal muscle weakness mimics the clinical manifestations of BMD, but facial weakness sags and Double vision is common.  Metabolic myopathy: Most patients complain of muscle weakness and pain during physical activity rather than during rest . Diagnostic Procedures Editorial Source] Serum Creatine Kinase – Moderately to Severely Elevated  Dystrophin Gene Deletion Genetic Analysis Analysis is performed by various methods such as multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR). MLPA is the most commonly used method.  Cardiac Magnetic Resonance Imaging (MRI) of Muscle Biopsy Stained with Anti-dystrophin Antibody Electromyography: used to distinguish primary neurological process disorders from myopathies. Nerve conduction studies – expected to be normal Scoliosis Transaminase Liver Function Test Outcome Measures [Edit | Edit Source] Outcome measures to quantify disease progression include: 6-minute walk test North Star Ambulatory Assessment Scale Time to climb four steps Time to rise from floor of upper extremities which performed. One of the limitations of these measures is that they target ambulatory or immobile patients . However, outcome measures change as the disease progresses, making it difficult to analyze patients using a single outcome measure. Working on uniforms Measurement of muscular dystrophy. Medical management edit source] No medications are offered to patients for the specific treatment of BMD. Medicines are used to treat symptoms commonly associated with BMD (such as heart medicines for heart disease). Corticosteroids Medications are used to help individuals walk for as long as possible by slowing down the inflammatory process.  Physiotherapy management [edit | editorial source] Patient and family education is important in these situations. Passive and active stretching to improve joint mobility (range exercise) and prevent or delay the development of contractures. Activities such as cycling and swimming can be used to improve cardiovascular fitness and strength training. However, care should be taken that these activities are not strenuous or tiring, as they can cause more damage to the body. muscle. Breathing exercises – In the early stages of the disease, a physical therapist will be involved to help keep the child active. In later stages of the condition, a physiotherapist will also help with breathing problems by using a spirometer to locate exhalations and coughs an effective way. Improve your child’s motor development skills and help him reach milestones by using Proprioceptive Neuromuscular Function | PNF techniques Various methods such as Roods Brunnstrom and Bobath Progressive resistance exercises with minimal weight and no fatigue muscle. Massage can be done on the muscles to relieve pain and contractures. Occupational therapy [edit | edit source] Activities of daily living (ADL) can be modified according to the level of impairment. Adjustments with tools can be done with assistive tools such as modified dressing stick grab bars Utensil handles raised toilet seat, etc.  For patients in wheelchairs, items can be placed in a lower position. Orthotics [edit | edit source] address mobility issues, including the need for equipment to aid in mobility, such as scooters or fully adapted wheelchairs with custom seats And back to custom support and electricity. Speech therapy [edit | edit source] Dysphagia problems can be assessed by a speech therapist. Clinical evaluation may lead to recommendations to avoid specific food textures and liquid viscosities, as well as certain locations during use feed. Recreational therapy [edit | edit source] can stimulate occupationally demanded desires and hobbies to promote personal well-being and overall physical health. These activities should be assessed against the child’s interests and abilities. various musical instruments Dance, arts and crafts, and yoga can be learned or inspired in children. Complications [edit | edit source] Complications may occur in the form of: Cardiomyopathy Progressive loss of lung and liver function Cognitive impairment in ambulation and fractures. high chance Postoperative chest infection. Rhabdomyolysis leads to myoglobinuria and subsequent renal failure. Corticosteroids cause adrenal insufficiency and immunosuppression. Resources [Edit | Edit Source] Muscular Dystrophy Duchenne Muscular Dystrophy – A Case Study Motor Neurone Disease MND – Physiopedia What is MND Motor neuron disease (MND) is a disease in which a group of motor neurons degenerate and die. It belongs to the group of conditions known as neurodegenerative diseases. Motor neuron disease causes loss of nerves in the spine and brain Function over time. They are a rare but serious neurodegenerative disease. Some MNDs are hereditary, but the cause of most MNDs is unknown. In sporadic or noninherited MND, either environmentally toxic viruses or genetic factors may be involved. MND is classified according to whether Is it hereditary or sporadic, and whether the degeneration affects upper motor neurons, lower motor neurons, or both. Common subtypes include In adults, the most common MND is amyotrophic lateral sclerosis (ALS), which affects both upper and lower motor neurons. It has hereditary and sporadic forms, and can Affects arms, legs or facial muscles. Primary lateral sclerosis (PLS) is an upper motor neuron disease Progressive muscular atrophy (PMA) affects only the lower motor neurons in the spinal cord Progressive bulbar palsy (PBP) The lowest motor neurons of the brainstem are most affected, lead to Slurred speech, difficulty chewing and swallowing. There are almost always mildly abnormal signs in the arms and legs. Kennedy’s disease is also known as progressive spinobulbar muscular atrophy post-polio syndrome (PPS) spinal muscular atrophy (SMA)  although MND is widely used The generic term ALS in the UK, Australia, and parts of Europe is more commonly used in the US, Canada, and South America.  MND is also known in the United States as Lou Gehrig’s Disease in honor of a famous baseball player who died from the disease. famous british physicist stephen Hawking lived with ALS for decades until his death in March 2018.  The video below gives a brief overview of the condition and NICE guidance on MND  Risk factors [edit | edit source] MNDs that occur in adults or children, depending on the type. More likely to affect men than women. Inherited forms of the disease may be present at birth and are most likely to appear after age 40, usually between the ages of 55-75. The various types may have different risk factors. SMA is always hereditary, but not all forms of MND are. According to the NINDS, about 10 percent of ALS Cases in the United States are hereditary. Veterans appear to be 1.5-2 times more likely to develop ALS than non-veterans. This may indicate that exposure to certain toxins increases the risk of ALS.  (Image – Agent Orange being stored) A 2012 study found Soccer players have a higher risk of dying from ALS, Alzheimer’s disease and other neurodegenerative diseases than other people. Experts believe this may indicate a link to recurrent head trauma Clinical presentation[edit | edit source] Early symptoms may be mild and include: Stumbling due to leg muscle weakness Weakness of hand muscles that makes it difficult to hold objects Weakness of tongue and throat muscles that make it difficult to speak or swallow Spasms and muscle twitching As the disease progresses, symptoms may include: Breathing Difficulty from decreased lung capacity due to muscle weakness Fatigue from exhausted muscles Decreased lung capacity Metabolic changes Weight loss and decreased food intake Insomnia from discomfort Pain from joint and muscle stiffness Excessive saliva Dry mouth or difficulty breathing Mild changes in cognitive skills and processes and/or behavioral changes Cognitive changes in the frontotemporal lobe (a type of dementia) evident in 5-10% of MND cases Excessive laughing or crying due to upper motor neuron damage Some pain or Discomfort diagnostic proceduresEdit source] Motor neurone disease (MND) can be difficult to diagnose because initial symptoms can resemble many other conditions . Neurologists use a series of tests to rule out other conditions before making a definitive diagnosis of MND. Tests may include: Creatine kinase produced when muscle breaks down. Nerve conduction studies (NCS) involve attaching electrodes to nerves and recording muscle activity as the nerves are stimulated with electrical impulses. Electromyography (EMG) measures the electrical activity of muscles Magnetism Resonance imaging (MRI) scans take pictures of the internal structures of the body and can show damaged areas. An MRI scan does not diagnose motor neuron disease because the damage caused by the disease does not show up on the scan. However, it can be used to eliminate other conditions that can mimic Symptoms of MND.  Management [edit | edit source] There is no cure or standard treatment for MND. Symptomatic and supportive treatments can help people be more comfortable while maintaining their quality of life. Multidisciplinary clinic staffed by specialists in neurology and physical therapy Respiratory therapy and social work are particularly important in the care of patients with MND . Dietitian – Proper nutrition and a balanced diet are essential for maintaining weight and strength. People who cannot chew or swallow may need a feeding tube inserted. amyotrophic lateral sclerosis When the individual is strong enough to undergo this minor surgery, a percutaneous feeding tube (to aid in feeding) is often inserted even before it is needed. Drug [edit | edit source] The drug riluzole (Rilutek®) has been approved by the U.S. Food and Drug Administration The drug (FDA) used to treat ALS extends life by 2-3 months but does not relieve symptoms. The drug reduces the body’s natural production of the neurotransmitter glutamate, which transmits signals to motor neurons. Scientists think too much glutamate can damage motor neurons and Inhibits nerve signals. The FDA also approved the use of edaravone (Radicava™) to slow clinical decline in ALS patients. The FDA has approved nusinersen (Spinraza™) as the first drug approved for the treatment of spinal muscular atrophy in children and adults. drug is It is injected intrathecally into the fluid surrounding the spinal cord. It is designed to increase the production of full-length SMN protein critical for the maintenance of motor neurons. Other medicines may help relieve symptoms. muscle relaxants, such as baclofentizanidine And benzodiazepines can reduce cramping. Botox may be used to treat jaw spasms or drooling. Excess salivation can be treated with amitriptyline and atropine or by injecting Botox into the salivary glands. Combinations of dextromethorphan and quinidine have been shown To reduce pseudobulbar effects. Anticonvulsants and NSAIDs may help relieve pain, and antidepressants may help treat depression. Panic attacks can be treated with benzodiazepines. Some people may end up needing stronger medicines such as Morphine is used to manage musculoskeletal abnormalities or pain, and opioids are used to provide comfort care in advanced disease. Physical therapy [edit | editorial source] Physical therapy rehabilitation may help improve posture, prevent joint immobility and slow muscle weakness and atrophy. Stretching and strengthening exercises may help reduce spasticity, increase range of motion, and keep circulation flowing. Heat can relieve muscle pain. Assistive devices such as braces or orthotics, speech synthesizers, and wheelchairs can help some people maintain independence. Noninvasive ventilation at night can prevent sleep apnea, and some people may also need assisted ventilation because of weakness in the neck, throat, and chest muscles during the day. Palliative care editorial source] Palliative care often becomes very important in patient care Suffering from motor neurone disease. There is increasing emphasis on multidisciplinary assessment and support of patients within research-backed guidelines. This includes informing the diagnosis, assessment and management of symptoms, consideration of interventions such as gastrostomy and Ventilatory support and care at the end of life. The goal of palliative care is to maintain the best possible quality of life for patients and their families and to help ensure a peaceful death. A collaborative approach involving many services will be required – including Primary/home/family care, but many specialty services such as gastroenterology, respiratory medicine, neuropsychology, and neurology and palliative care services. It is important to ensure that these services provide coordinated care and many services will recommend specific/key people or teams to work with them Patients and families can be in constant contact.  Prognosis [edit | edit source] Prognosis varies by MND type and age of onset. Some MNDs, such as PLS or Kennedy’s disease, are not fatal and progress slowly. People with SMA may appear to be stable long-term, but Improvements should not be expected. Some MNDs (such as ALS) and some forms of SMA are fatal. Sources for future editors] Over the past decade, patient care has improved significantly, but science has also advanced so rapidly that it now appears that rational therapies based on key pathogenic mechanisms Plausible.  Research is focused on creating new and better drugs, developing potential treatments from stem cells, and identifying genetic mutations and other factors that may influence the development of these diseases.  Stem cell scientists are developing a wide range of model systems Animals and cells to study disease processes and speed up the testing of potential treatments. Because stem cells are able to develop into many different cell types, including motor neurons and supporting cells, they have the potential to repair nerve damage caused by motor neuron disease. Gene therapy In mouse models of SMA and hereditary ALS, the scientists used gene therapy to stop motor neuron destruction and slow disease progression. A small clinical trial of SMN gene replacement therapy in patients with SMA is underway. Scientists are using advanced sequencing techniques to Identification of novel genetic mutations associated with MND. These gene discoveries provide new insights into cellular disease processes and possible therapeutic intervention points. Drug Intervention Researchers are testing whether different drugs or interventions are safe and Effectively slows the progression of MND.
- ↑ Jump up to:1.0 1.1 Darras BT, Markowitz JA, Monani UR, De Vivo DC. Spinal muscular atrophies (2015) Neuromuscular Disorders of Infancy. Childhood, and Adolescence: A Clinician’s Approach.:117-45.
- ↑ Genentech. Understanding Spinal Muscular Atrophy (SMA). Available from: https://www.youtube.com/watch?v=5mI_ZsWkkc4 (last accessed 7.6.2019)
- ↑ Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. The Lancet Neurology. 2012 May 1;11(5):443-52.
- ↑ Spinal muscular atrophy. Available from https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/ Last accessed 14/08/2022
- ↑ Cure SMA. Learn to Spot the Warning Signs of SMA – Snapshot of Hallmark Symptoms (Video 9) Available from: https://www.youtube.com/watch?v=G5yIdH0yans&feature=emb_logo [last accessed 31/01/2021]
- ↑ Montes J, McDermott MP, Martens WB, Dunaway S, Glanzman AM, Riley S, Quigley J, Montgomery MJ, Sproule D, Tawil R, Chung WK. Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology. 2010 Mar 9;74(10):833-8.
- ↑ Ramsey D, Scoto M, Mayhew A, Main M, Mazzone ES, Montes J, de Sanctis R, Dunaway Young S, Salazar R, Glanzman AM, Pasternak A. Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. PloS one. 2017 Feb 21;12(2):e0172346.
- ↑ Wijnhoven TM, de Onis M, Onyango AW, Wang T, Bjoerneboe GE, Bhandari N, Lartey A, Rashidi BA. Assessment of gross motor development in the WHO Multicentre Growth Reference Study. Food and nutrition bulletin. 2004;25(1_suppl_1):S37-45.
- ↑ Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Young SD, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G. Revised upper limb module for spinal muscular atrophy: development of a new module. Muscle & nerve. 2017 Jun;55(6):869-74.
- ↑ Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders. 2018 Feb 1;28(2):103-15.
- ↑ Tiziano FD, Lomastro R, Pinto AM, Messina S, D’Amico A, Fiori S, Angelozzi C, Pane M, Mercuri E, Bertini E, Neri G. Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. Journal of medical genetics. 2010 Dec 1;47(12):856-8.
- ↑ Passini MA, Cheng SH. Prospects for the gene therapy of spinal muscular atrophy. Trends in molecular medicine. 2011 May 1;17(5):259-65.
- ↑ Harper JM, Krishnan C, Darman JS, Deshpande DM, Peck S, Shats I, Backovic S, Rothstein JD, Kerr DA. Axonal growth of embryonic stem cell-derived motoneurons in vitro and in motoneuron-injured adult rats. Proceedings of the National Academy of Sciences. 2004 May 4;101(18):7123-8.
- ↑ Jump up to:14.0 14.1 Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders. 2018 Mar 1;28(3):197-207.