Neuromuscular Disorders

What is a neuromuscular disorder?

Rheumatoid arthritis is a general term that encompasses a number of diseases with different manifestations. The terms ‘rheumatoid arthritis’ ‘myopathy’ ‘musculoskeletal condition’ and ‘muscular dystrophy’ all describe a group of affected conditions nerves in the limbs or in the heart and lungs or in the nervous system[1].

• There are many different types of muscle disorders. The severity of the condition and how it affects individuals varies from person to person.
• Most cases are progressive, causing the muscles to gradually weaken over time. People’s mobility is affected and some kind of disability may result.
• These diseases also affect infants children and adults of all genders and races.
• Conditions can be hereditary or not hereditary.

Symptoms

Some neuromuscular diseases have symptoms beginning in infancy and in some, symptoms may appear in childhood or adulthood. Symptoms can appear in different parts of the body depending on the type of neuromuscular disease and the biological system affected[2].

It is worth noting that neuromuscular disease can be congenital or the result of spontaneous gene mutations. It is also possible that the immune system can contribute to arthritis.

Common symptoms include;

• Muscle weakness.
• Numbness or loss of sensation.
• Muscle atrophy.
• Loss of balance and motor control.
• Breathing and swallowing difficulties.

Diagnosis

Some types of nerve fibers are extremely rare and may be unknown to healthcare professionals. The clinician should perform a thorough medical examination and check the patient’s family history. It is important to assess the patient’s sensory and motor skills to… assessment of other symptoms. Genetic testing can be done to confirm gene mutations or family history.

• Other tests that can help confirm the diagnosis include:
  • histology and analysis of CK (creatine kinase) levels in the muscles
  • blood tests for elevated enzymes
  • electromyography (EMG) ne/anaasɛ magnetic resonance imaging (MRI) .
  • nerve conduction studies to assess the transmission of nerve signals from nerve to nerve
  • cerebrospinal fluid (CSF) collection by lumbar puncture to detect inflammation

There are over 150 types of neuromuscular disorders and more are being diagnosed every year[3]. Some of those scenarios are listed below:

Conditions

• Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease
• Charcot-Marie-Tooth Disease
• Multiple Sclerosis
• Musculoskeletal disorders (MD) (Duchenne MD Becker MD Limb Girdle MD) .
• Spinal Muscular Atrophy
• Guillain-Barre Syndrome
• Muscular Polyneuropathy of Premature Recovery
• Multifocal Motor Neuropathy
• Myasthenia Gravis
• Inflammatory Myopathies
• Pompe’s Disease
• Drop Head Syndrome .

A detailed list of many known neuromuscular disorders can be found here.

Treatment

Currently there is no cure for rheumatoid arthritis. But research is underway and various drugs and gene therapies offer hope for ways to treat those conditions[4]. Symptoms that improve quality of life and prolong disease progression are now treated well presented[5]. Both physical therapy and surgery are an integral part of the overall management of both pediatric and adult neuromuscular disorders.

Most patients will have regular assessments (between 6 and 12 months depending on severity) where any concerns or changes should be noted. The exercise plan should document if there have been problems or improvements; dropping pain or issues at school should be referred as appropriate. Home modifications should be instituted if the patient begins to lose function or become immobile.

Achieving independence in this group of patients should be a priority. The person should be thoroughly examined. For ambulatory patients it is important to watch for velocity leading to discontinuation. For those who do not travel, the type of wheelchair used can determine their independence.

Useful resources

The Muscular Dystrophy Campaign

Muscular Dystrophy UK