Charcot-Marie-Tooth Disease Case Study

Abstract

Charcot Marie Tooth disease is a common progressive peripheral neuropathy that affects the motor and sensory systems. This fictional case study describes a 23-year-old man who was diagnosed with Charcomarie dental disease (CMT1A). Subjective and objective findings in the initial assessment and Follow up at 3 months to monitor his physical therapy progress. Physiotherapy interventions aim to improve all aspects of the patient’s body structure/function activity and participation in accordance with the ICF model. Targeted patient-centered treatment aimed at improving ROM intensity balance Endurance and Pain Management. An interdisciplinary team approach was used to manage all aspects of the case, including referral to a podiatrist for pharmacological interventions and OT. Patients are motivated to slow the progression of the disease, and according to the outcome measure score, it is It is clear that patients can maintain their functional status and quality of life if not improved by physical therapy interventions.

Introduction

CMT1a Symptoms[1]

This case will examine a 23-year-old male with a diagnosis of CMT1A. This inherited neuromuscular disorder affects more than 2.6 million people worldwide and is the most common form of peripheral neuropathy [2]. Gene mutations can be autosomal dominant or autosomal recessive or X-linked. have Six subtypes of CMT (CMT1A CMT1B CMT2 CMT3 CMT4 CMTX1) are distinguished by demyelination or progressive axonal degeneration. Symptoms common between subtypes may include sensory changes and atrophy with impaired motor function, preceded by distal lower extremity (ankle) The upper extremity is affected first by the long nerve, and the deep tendon reflexes are weakened. As a result of this presentation, patients with CMT often have altered gait and deformity of the foot (cavus). Concomitant diabetes or acute/chronic inflammatory demyelinating polyradiculoneuropathy can lead to more severe Disease progression [3].

The purpose of this case study is to provide the reader with an understanding of the manifestations of CMT in a young man who was previously active and of less severe severity, and how physical therapy can help modulate quality of life and functional activity in this progressive disease. The case will serve as an easily accessible Free online resource for healthcare professionals and families. The severity and presentation of this disease will vary from person to person and even between family members, from no/mild symptoms to severe injury requiring a wheelchair or respiratory failure requiring assistance Ventilation [3][4]. This case study will enable the physical therapist to distinguish between the needs of the patient’s specific progression and the appropriate interventions and goals to maintain or improve quality of life.

Client Characteristics

The patient was a 23-year-old male who had recently graduated from Teachers College and was currently working as a high school teacher in a medium-sized Ontario city. His hobbies include playing and coaching badminton, and cycling with his buddies on the weekends. patient referred She was in physical therapy after being diagnosed with CMT type 1a by a neurologist and had been in physical therapy for 4 months. His main complaints were chronic tolerance at work and restrictions on sports participation. He noticed changes in his balance and feeling in his feet.

Examination Findings

Subjective

History of Present Illness

A 23-year-old man was diagnosed with demyelinating Charcot Marie dental disease (CMT1A) 4 months earlier by a neurologist based on family history, nerve conduction testing and exclusion of other neurologic disorders such as diabetic neuropathy. After an initial presentation to their family physician, they Referral to a neurologist with the following signs and symptoms in the past year: persistent pins and needles in the feet bilateral balance disturbance lower extremity pain and muscle spasms. Broken wrist 1 year ago, receiving physical therapy Treated for a sprained ankle 1.5 years ago but otherwise healthy. They are currently not taking any medication and have been referred for physical therapy.

Pes cavus as seen in CMT[5]

Functional Status

The patient lived alone in a one-bedroom apartment with an elevator, was able to perform all activities of daily living independently, and walked without a walking aid. They describe difficulty walking on snow and running, jumping, or cutting on uneven terrain to their physical therapist and chronic ankle sprains. Although previously active, their daily activity levels had decreased significantly over the past 6 months. They currently walk about 1 km per week but are unable to fully participate in recreational physical activity. they want to be positive Play badminton with your students instead of just observing.

Objective

Observation

The alignment of the spine is normal. There was atrophy and hypotonia of the plantar flexors and tibialis anterior muscles bilaterally. There was no obvious atrophy of the upper extremities. Feet exhibited high arched feet with slight hammer toes bilaterally. The skin appears normal and intact.

Neurological Assessment

Superficial Sensations

Light touch  

• Noticing decreased sensation below the midpoint between the ankle and knee
• No sensation in the distal feet and toes

Pinprick

• Absence of first metatarsal joint and medial and medial malleolus
• Decreases at the midpoint between the ankle and knee joints on the anteroposterior surface bilaterally
• Normal tests in the proximal 5 cm of the medial and lateral femoral condyles

Deep Sensations

Proprioception

• Decreased positional sense of bilateral ankle joints and first metatarsophalangeal joints

Vibration perception (tested with 128 Hz tuning fork)

• Bilateral first metatarsal joints without sensation
• Bilateral medial malleolus sensory disturbance

Upper Motor Neuron Reflexes

Negative Babinski and Hoffman

Vitals

Pedal and radial pulses are strong and regular

Deep tendon reflex (DTR) right left biceps 2 (normal) 2 (normal) triceps 2 (normal) 2 (normal) patella 2 (normal) 2 (normal) Achilles tendon 1 (weakened) 1 (weakened)

Range of Motion

Active Range of Motion (AROM): Hip extension 5 degrees bilaterally, ankle dorsiflexion 10 degrees bilaterally. All other AROMs were within normal range.

The passive range of motion (PROM) of the upper and lower extremities was within normal limits. It finally feels normal.

Manual Muscle Test (MMT) Right Left Dorsiflexion 44 Plantar Flexion 44 Inversion 44 Valsion 4-4 Knee Extension 44 Knee Flexion 44 Hip Flexion 55 Hip Extension 4 4 Shoulder Flexion 55 Shoulder Extension 55 Elbow Flexion 55 Elbow Extension 55 Wrist Flexion 4 4 Wrist Extension 4 4

For more information on the pathophysiology and observations of Charcot-Marie-Tooth symptoms presented metaphorically, this video may be helpful:

[6]

Observational Gait Analysis

Using technology when analyzing gait ensures accuracy and improves our observations as physical therapists [7]. An economical and transferable solution of wearing an ankle monitor was implemented in the evaluation when analyzing gait [8].

• Reduce stride length and cadence.
• Mild foot drop with increased contact during early stance decreased plantarflexion at toe-off and increased hip and knee flexion during mid-swing.

Outcome Measures

Charcot Marie Tooth Disease Neuropathy Score [9]: A score of 9 indicates less severe disease.

10-minute walk test: 9 seconds at 1.1m/s at maximum speed, indicating community walking.

Hand dynamometer [10]: 3 times on both sides, with an average of 38 kg for the right hand and 34 kg for the left hand.

Community Balance and Mobility Scale [11]: A score of 72 indicates mild dysfunction and capacity for more complex functional tasks within the community.

Fatigue Severity Scale [12]: A score of 23 indicates mild fatigue while performing functional activities.

Neuropathic Pain Symptom Scale [13]: A score of 24 indicates some neuropathic pain in the lower extremities.

Charcot-Marie Dental Health Index [14]: A self-reported score of 30 indicates that disease has some impact on quality of life, but is not debilitating.

Clinical Impression

Analysis

A 23-year-old male reported to their family physician a 1-year history of sensory and balance deficits in the lower extremities and a neurologist diagnosis of Charcot-Marie dental disease (CMT1A) 4 months earlier. Disease severity was determined to be mild based on CMTNS and patient assessment Reported quality of life indicators were optimistic. There is currently no indication for referral to mental health support. The injury primarily affects the lower legs bilaterally. DTR at the Achilles tendon was reduced but otherwise normal. Sensory deficits are evident in the distal ends of the legs, which increases the risk to the feet sore. Insufficient strength in all directions of the ankle was observed, which may increase the risk of falls, ankle injuries and lower extremity contractures. The patient exhibited mild foot drop and slight striding. Walking speed below age-matched healthy controls, but currently at Safe neighborhood walking restrictions. If disease severity increases beyond CMTNS score 11, patients may benefit from foot orthotics and should be referred as appropriate. The patient is usually able to maintain balance on flat terrain, but indicated that he struggled with complex uneven terrain and dynamic environment. Gait aids are not currently required, but may be considered as the disease progresses. Minor impairment in the upper extremities was observed, but indicators of grip and wrist strength were below average. A referral to an occupational and/or hand therapist may be Considered in light of future changes in disease status. Patients live alone but have adequate social support. They report no significant limitations in occupational responsibilities and are independent in all ADLs, but they cannot run, jump or participate in sports safely. patient fit PT therapy for maintaining and improving strength and balance preventing LE contractures and ulcers reducing the risk of falls monitoring disease progression and maintaining functional independence.

Prognosis

Their prognosis is relatively good because they are young, have no injuries affecting their previously active upper extremities, and are otherwise healthy. The disease is progressive but progresses slowly, so patients should be continuously monitored and reassessed periodically, especially in the next 10 years.

Problem List

• Sensory deficits in the distal lower extremities and risk of foot soreness
• Increased risk of falls due to strength deficits in the ankles (all directions), proprioceptive deficits, and foot drop
• Hip extension and ankle dorsiflexion AROM reduction
• Balance deficit on uneven terrain
• Decreased walking speed for age
• Lower extremity neuropathic pain affects functional activities to some extent
• Mild fatigue with completing ADL’s
• Limitations in sport participation

Intervention

Patient-centered Treatment Goals

Short-Term Goal (STG) 1 (Body Structure/Function): Increase bilateral ankle dorsiflexion AROM by 5° in 4 weeks. The current bilateral ankle DF is 10°, less than the expected value of 20°.

– Reasoning: Increasing ankle DF and preventing progression of contractures will allow for more normal gait mechanics.

Long Term Goal (LTG) 1 (Body Structure/Function): Increase knee (flexion-extension) and hip (flexion-extension) MMT to 5/5 within 3 months Maintain ankle dorsiflexion, plantarflexion, and medial bilaterally Verted MMT was 4/5 and ankle valgus was 4-/5 bilaterally.

– Reasoning: Literature supports that 12 weeks of moderate resistance exercise was found to increase MMT values in CMT patients [15]. However, depending on the patient’s foot deformity and progressive nature of the disease, current ankle strength maintenance is more realistic than MMT Improve.

STG2 (Activity): Hold single-leg position for 30 seconds on a double-sided swing plank over 4 weeks.

– Reasoning: Increasing his proprioception is critical to reducing ankle roll. The wobble board will provide a greater challenge by reducing stability and increasing mobility, and prepare him for the uneven surfaces he encounters in everyday life.

LTG2 (Activity): Increase score on the “running with controlled stops” item on the Community Balanced Mobility Scale from 1/5 (running time >5.00 seconds) to 3/5 (running time >3.00 seconds but ≤5.00 seconds with both feet on line under control).

– Reasoning: Improving the patient’s ability to run at higher speeds and incorporating controlled stops in his balance training program will allow the patient to safely return to badminton.

STG3 (Participation): Assist substitute coach with 1 hour of badminton practice after school, with a maximum of two 5-minute sit-down breaks, within 2 weeks.

– Reasoning: Patients with CMT fatigue easily, and since this patient’s activity level is greatly reduced, it is important to set progressive goals using cognitive behavioral therapy pacing techniques.

LTG3 (participation): Within 3 months, be able to independently guide badminton practice for 1 hour after school, without sitting and resting.

– Reasoning: 3 months for him to gradually increase his responsibilities at work until he can independently tutor the practice. An ankle foot orthosis will not be used at this time as his CMTNS is below 11, but it is a potential option if his ability declines.

Management Program

Increased Strength and Balance: Increasing ankle strength in patients with type 1A CMT disease is critical as muscle imbalances have been shown to precede foot deformities [16]. It is also important for individuals involved in sports that involve quick step reactions, because CMT Patients have weaker foot valgus muscles compared with varus varus muscles, leading to a higher risk of varus ankle sprains [17]. Patients will perform strap dorsiflexion plantarflexion varus exercises (using Theraband; 3 sets of 10 reps) and heel raises (3 sets of 10 reps). Heel raises will be taught with two feet on a flat surface, followed by single-leg heel raises on an elevated surface. Glute bridges and quad kickbacks (3 sets of 10 reps) will be used to increase glute strength.

Walking Running and Endurance: Using neuromuscular electrical stimulation to stimulate the tibialis anterior muscle through gait training to alleviate the functional impact of his foot drop. Ramp times are not used to promote normal gait mechanics. Once the patient shows Improvement of muscle strength through walking moderate-intensity resistance exercise and low-intensity aerobic exercise will be encouraged to maintain muscle strength and improve cardiorespiratory fitness [18]. Since the patient likes to cycle on the weekends, this may involve biking and biking An ergometer regimen below the maximum fatigue threshold, 3 days per week for 12 weeks, has been shown to be effective in patients with neuromuscular disorders [4]. Encouraging the patient to cycle with his partner 3 times a week would make this more meaningful and realistic. Running in the clinic Initiate only after the patient has shown a higher fatigue tolerance.

Education and Pain Management: Continuing education will be provided to the patient about the progression of the disease and the importance of remaining as active as possible. Standing and walking provide passive stretching of the intrinsic muscles of the foot, helping to prevent development or Progression of contractures [19]. As a teacher, the patient was on her feet for several hours of the day, which would keep her feet extended. In addition, studies have shown that lower health-related quality of life in these individuals is associated with limb weakness and pain [20]. this suggest that helping this man resume his favorite sport of badminton by increasing lower body strength and implementing pain management strategies may improve his quality of life. Muscle cramps are a common complaint in this population, so a good 5-minute warm-up on the treadmill A stationary bike will be used until completing his practice sessions. At the end of the class, he will also take a 5-minute walk to relax and complete a 10-minute stretch of the major muscle groups. On days when he experiences more pain, low f TENS will be used at the start of treatment to allow Complete his procedure (pulse frequency: 2pps pulse duration: 200us amplitude: visible contraction 20-30min). A sensory test will be done before using TENS and if it is used on an area of decreased sensation he will be monitored very closely throughout its duration its use. [21] Due to sensory issues, patients will be taught how to monitor for foot ulcers and will have their feet checked regularly at the clinic. Other members of the medical team also need to be consulted to ensure that other factors, such as hydration needs, are being met.

Outcome

Since our patient is very motivated to slow the progression of CMT and its impact on his life, he has been working on his short and long term goals. He intervened as prescribed by the physiotherapy team and showed improvement or a good level of maintenance 3 months later. He increased his ankle dorsiflexion range of motion by 3 degrees and increased his range of motion by 13 degrees, just below his short-term goal of 15 degrees. Additionally, his MMT increased as he stabilized the joints of his lower body, primarily his hips and knees. These are bilateral 5/5 this will also Helps promote symmetry for any gait issues. Strength training in his feet was more difficult to improve due to the natural progression of the disease initially affecting more distal extremities. Unfortunately, his DF and PF MMT remain the same, but his inversions and eversions have Improved; 4/5 and 4/5 respectively. The hand dynamometer values did not show any significant changes in either direction. At the 3-month time point, all outcome measures were also retested. 10MWT increased slightly to 1.16 m/s, most likely due to strength and aerobic exercise train. The CBMS score increased by 6 points to 78/96, which is not a minimally detectable change [11]. This growth is evident in the controlled stop workouts he’s been doing. He has been able to improve his CMTHI score, bringing it down to 18/100, based on improvements in Strength and balance, but he still has deficits in his distal upper body and issues with his personal life. This new diagnosis of CMT was overwhelming for him. Finally, the Neuropathic Pain Symptom Scale (20/100) and The Fatigue Severity Scale (19/63) will help improve his quality of life since his initial physiotherapy appointment, including being able to assist the badminton coach for longer periods of time.

The patient has a good understanding of his home exercises and the importance of training the foot muscles to slow the progression of CMT. He also demonstrates the ability to adapt the training parameters to his CMT phase. He shows great interest in cycling with his partner, and Has said it had a positive impact on his functional status. Discharge is not recommended at this time, as CMT is a progressive disease requiring ongoing investigations. The frequency of physiotherapy visits can be reduced, but follow-up visits should be at least every 6 months. This will provide an opportunity to redo standardized tests and discuss any progress that needs to be made in the home exercise program. Also, discussions about installing a gait aid may need to be implemented early on, so if he needs one, it would be an easy and expected transition.

Other resources to consider during his treatment are getting in touch with an occupational therapist for home modifications, such as raised toilet seats and bathroom grab bars. Occupational therapists can also help with the dramatic changes our patients will experience From physical challenges to social or psychological challenges. The patient should also contact his family physician to discuss any medication needs that can be addressed, such as pain management or management of other sensory symptoms. his family doctor can also To investigate referral to a podiatrist or orthotic as an option for early intervention in cases of foot deformities. These services can assist in prescribing AFO if further understanding of his disease progression is needed. If our patients are looking for more aggressive interventions, we could lead them to gene therapy as a potential option [22]. However, this is a more expensive route and only very new research supports its use, so we should be aware of this when recommending it. Advances in modern technology will make this a more viable option in the future Implementing therapies such as gene silencing and gene replacement. Like many neurological disorders, the most beneficial outcomes will be achieved if our patients have access to a variety of healthcare providers. Working as a multidisciplinary team will provide the necessary Collaborate and ultimately optimize patient quality of life.

Since our patient is also a young and mentally capable male, he will be able to benefit from a rehabilitation program centered on technology that he can use at home. This can benefit patients in a number of ways, including reducing the time and cost required to travel to the clinic For patients and providers alike. In the 21st century, many aspects of life now revolve around technology, and physical therapy is no exception. For patients with neurological conditions, including those of us undergoing CMT, games such as virtual reality can help improve movement performance [23]. Using virtual reality can help by giving patients real-time feedback and letting patients choose games that make sense to them. For our patiently encouraging interactive games such as virtual badminton and cycling at home will ensure a higher level of Excitement and willingness to participate in this treatment.

[24]

The overall impact of physical therapy for this patient is to optimize their quality of life. The physiotherapy team will continue to emphasize the importance of performing activities that are meaningful to them and will promote the use of his lower extremities.

Discussion

A 23-year-old man with a recent diagnosis of CMT1a was referred to physical therapy for treatment and disease management strategies. His main complaints were inability to stand for long periods of time, increased difficulty with balance, and inability to participate in sports/coaching due to Fatigue and coordination problems. Initial examination revealed normal sensation in the upper body, but decreased sensation between the ankle and knee and below the ankle. Loss of vibration sensation in the first metatarsal joint, impaired vibration sensation in the medial malleolus bilaterally Position sense was impaired in both ankle joints and the first MTP joint. Upper motor neuron assessment was normal. All reflexes were normal except the Achilles tendon reflex, which was diminished. Both AROM and PROM were within normal limits except for hip extension and slight reduction in ankle dorsiflexion. When testing MMT, it was evident that the upper extremity and proximal leg muscles did not show any deficits, but the patient was weak in ankle dorsiflexion, plantarflexion inversion, and valgus. These weaknesses can be the cause of gait abnormalities such as Reduces stride length and cadence Mild foot drop, increases early stance contact reduces toe-off plantarflexion, and increases mid-swing hip and knee flexion. When looking at objective measures, the patient scored a 9 on the CMTD scale, indicating that they had mild the severity of the disease. In our gait analysis, they scored 9 seconds on the 10m walk test (1.11m/s), which was slower than expected since the norm for 20-29 year olds is 1.36-1.34m/s, but still indicated community walking [25]. Patients scored 72/96 on the CBMS; average for healthy subjects The population of his age group is 88.71, which means that he has some possibility to improve his independence in the community [26]. In the end, he scored 30 points on CMTHI. During the past 4 months of physical therapy, short and long term goals have been established. His goals include: Increase ROM Strength Functional Activities Walking Exercise Participation and Education. These goals will be achieved through various treatment strategies such as self-management/home exercise podiatrist referral GP referral for medication intervention OT referral at home Adaptation and referral to a genetic counselor. The disorder is often considered a disease diagnosed in childhood, so symptoms may go unnoticed in adulthood. Interventions for this and other progressive diseases should aim to slow progression and help patients cope Functional consequences of maintaining quality of life. At 3-month follow-up, patients’ strength and ROM increased or remained unchanged. He was also able to maintain his CBMS scores and showed a decrease in his Fatigue Scale and CMTHI scores, suggesting he was able to maintain even without Improve his functional status and quality of life. This case study aims to demonstrate that prognosis in a progressive disease such as MS or MND may result in improved function, not just loss of function.