Charcot-Marie-Tooth Disease: A Case Study

Abstract

This is a fictional case presentation based on a college-aged varsity boys soccer player who was recently diagnosed with Charcot-Marie-Tooth disease (CMT). Case studies document the initial physical therapy assessment and diagnosis through follow-up throughout the course of treatment patient lifespan. It highlights the main challenges experienced by patients, patient-centered goals, intervention methods and rehabilitation programs, and outcomes. Patients mainly complain of difficulty walking to and from class and increased tripping while walking Walking/running Significantly reduced ability to play a full game of football due to foot drop calf pain and lower extremity muscle weakness and fatigue, and problems with cutting and shooting accuracy during football practice/games. Initial assessment and use of specific outcome measures showed that bilateral anterolateral muscle atrophy and increased lower extremity tone decreased DTR. Loss of R-side ROM dorsiflexion decreased muscle strength. Bilateral fatigue resulted in abnormal gait and minor balance disturbances. Interventions focused on maintaining Lower extremity strength to maintain the patient’s functional capacity and independence. Due to the high risk of decreased peak oxygen consumption in CMT patients, aerobic exercise is another important component of treatment. Patient education about overtraining and self-management will become An important component throughout disease progression and frequent balance assessments to reduce the risk of falls. A prescription for stretching and daily activities is essential to stay in shape. Use of AFO will help dorsiflexion improve gait and lower decline. Confirm the patient’s ability to maintain muscle strength and fatigue by using manual muscle testing and the Fatigue Severity Scale. Stretching and flexibility exercises successfully maintained ROM and prevented the development of contractures. in use The Community Balance and Mobility Scale and the 10-meter walk test will be administered throughout the patient’s life to assess balance and gait deficits. Patients are followed up every 4 months to assess disease progression and adjust rehabilitation plans need. This case study was prepared with the hope that it would inform healthcare practitioners about common signs and symptoms of CMT disease progression, intervention approaches using evidence from CMT-specific outcome measures, and predicting outcomes in CMT patients.

Introduction

This case study describes an 18-year-old male who was recently diagnosed with type 1 CMT disease. CMT disorders are the most common inherited neuromuscular disorders, affecting approximately 1 in 2500 individuals [1]. There are two main subtypes of the disease, type 1 is characterized by slow Nerve conduction due to demyelination is associated with type 2 axon degeneration [2]. Both subtypes primarily affect motor neurons and, to a lesser extent, sensory nerves [2]. Onset of CMT disease usually occurs in the first 20 years of life and usually progresses slowly Progress [3]. Although disease progression varies, symptoms usually first appear in the distal lower extremities with muscle weakness, loss of sensation, and decreased reflexes [3]. As CMT disease progresses, the proximal lower extremities and upper extremities are also affected [2].

The purpose of this case study is to provide an example of how a person can develop CMT disease at an early stage. This information may help a physical therapist or other healthcare provider recognize symptoms of CMT disease and know when to refer the patient to A neurologist makes a diagnosis. As mentioned earlier, disease onset and progression can vary. Thus, this case represents what a more traditional patient might experience. The disease may have an earlier onset and more rapid progression, as in A case study of a Paralympic swimmer with CMT disease [4]. Additionally, this case provides examples of outcome measures that can be used to measure CMT disease progression over time. Symptoms do not improve due to the degenerative nature of the condition. However, various interventions Methods available to help slow disease progression are outlined in this case study.

Client Characteristics

The patient is an 18-year-old male Queen’s University student and varsity football player. He had been referred for physical therapy by a neurologist and had recently been diagnosed with Charcot-Marie-Tooth disease, but was previously in excellent health with no significant medical history. he spends most of his time in class Or during soccer practice/competition. The patient complained of difficulty walking to and from class and around school/town, and had a significantly reduced ability to play a full game of soccer due to foot drop, calf pain, and bilateral lower extremity muscle fatigue and weakness. he also pointed out Frequent stumbles while walking/running, as well as shooting accuracy and cutting issues during soccer practice/games. Eventually, patients report a gradual decline in their ability to sleep.

Examination Findings

Subjective

Discomfort and Pain

Onset: April 16th, 2019 (3 wks ago)

Site: bilateral antero-lateral lower leg

Features: Deep, dull pain or sharp stabbing pain

Radiation: Anterolateral calf to dorsum of foot

Periodic: Intermittent with no apparent pattern

Duration: varies from 10-30+ minutes.

Aggravating factors: Activities such as soccer or walking to class

Alleviating factors: rest

Intensity: McGill Pain Questionnaire [5]: Sensation: 8/33 Affect: 4/12 VAS: 4/10

Objective

Observation

Lower extremity: There was slightly more muscle atrophy in the right calf compared to the left, but mainly in the anterolateral portion of the calf. Bilateral flat feet.

Palpation: increased tension bilaterally in the anterolateral portion of the gastrocnemius and soleus muscles of the calf. The hypertrophic nerves, mainly the common peroneal and superficial nerves, are palpable but not visible.

Examination

Upper and Lower Neurological Scan

• Physiological ROM: Cervical and Lumbar: WNL
• Non-Physiological ROM: Cervical and Lumbar: WNL
• Dermatomes: normal.
• Myotomes: Reduced strength via bilateral L4-S1.
• AROM: Right dorsiflexion slightly attenuated, but all other movements of upper and lower extremity WNL.
• Dural Test: Negative Spurling’s Test Straight Leg Raise Test and Collapse Test.
• Reflexes: Bilateral (Achilles and patella) Babinski and Hoffmann deep tendon reflexes were impaired.
• Vascularity: Radial and tibial pulses were found bilaterally.

Range of Motion

• Composite functions of the hand: full
• Upper extremity: All joints WNL.
• Lower: 14° of dorsiflexion at all other right joints WNL.

Muscle Strength Testing

• Grip strength using dynamometer:
  • Dominant hand (R) 52.1 kg non-dominant hand (L) 49.4 kg
• Maximal Voluntary Isometric Contraction:
  • Bilateral strength reduction by ankle dorsiflexion (R: 3+/5 L: 4/5) great toe extension (R: 3+/5 L: 4/5) eversion (R: 3+/5 L: 4/5). 4/5) plantar over knee flexion (R: 4/5 L 4/5) knee flexion (R: 4/5 L: 4+/5) .
• Calf Body Weight Generally Increases To Exhaustion:
  • R: 7 reps; L: 13 reps

Neurological Testing

• Deep Tendon Reflexes:
  • Biceps brachioradialis and triceps: 2 (normal) .
  • Achilles and patellar: 1 (confused but present) .
• Sensation Testing:
  • Data on differences between hot and cold stimuli were present throughout the L4-L1 distribution but not between the 1st and 2nd toes.
  • Intact contrast to soft touch dull/ sharp and crude pressure.

CMT Specific Outcome Measures

• Fatigue Severity Scale (FSS) [6]: to measure fatigue activities related to participation in daily life and sleep.
  • Score= 49/63
• CMT Neuropathy Score [7]: Disability Measures
  • Score= 12 /36
• Overall Neuropathy Limitation Scale (ONLS) [8]:
  • Upper Body Score = 0/5 (arm unaffected)
  • Lower extremity score = 2/7 (walks independently but gait looks abnormal)
  • Total score= 2/12
• 9-Hole Peg Test (9-HPT) [9]: Manual dexterity
  • Dominant = 18.3 seconds Invisible = 19.1 seconds

Balance Assessment

• Community Balance and Mobility Scale (CBMS) [10]:
  • Score= 81/96

Gait Analysis

• 10 Meter Walk Test (T10MW) [11]:
  • Score= 1.1 m/sec
• Observation:
  • Step and step length WNL step width The noticeable deviation of WNL from normal time used in single and double support stance phase which is slightly longer on the left and swing phase slightly longer on the right. Low walking speed of 1.1 m/sec as measured by T10MW but data are still missing within reasonable limits. Foot drop and decreased dorsiflexion at the right ankle position were also observed. The pelvis shows a slight gait to the right and there is a lateral pole rotation to the left that may allow for the possibility of removal of the right lower extremity. Arm swing is normal and involvement in the.

Clinical Impressions

PT Diagnosis: 18 year old male recently diagnosed with Charcot-Marie-Tooth Disease presenting with decreased muscle strength and endurance increased muscle fatigue balance and sensory deficits gait abnormalities and pain in and the footprints. The condition is affecting the patient’s ability to participate in sports and go to and from classes.

Problem List

1. Decreased muscle strength and endurance
2. Increased muscle fatiguability
3. Minimal balance deficits
4. Abnormal gait (reduced dorsiflexion tripping foot drop) .
5. Pain in lower extremities

Intervention

Short Term Goals

• Reduce pain to 3/10 on the VAS and McGill Pain Questionnaire using AFO and avoid lower limb contraction with ROM exercises and extensions during the first 4 weeks of treatment . . . .
• Maintain strength at 3+/5 for dorsiflexion bilaterally and maintain lower limb endurance using the Fatigue Severity Scale (49/63) and The Repeated Plantar Flexion to Fatigue Test (R: 7 L: 13) a you will implement it by implementing the strength and aerobic training programs during the first 2 weeks of treatment.
• Teach the patient the importance of exercise and techniques for preserving strength during initial treatment.
• Develop a plan to maximize energy efficiency and reduce fatigue (e.g., planned walking routes on campus) during initial treatment.
• Improve gait by using AFO and gait retraining to maintain pain levels of 4/10 on VAS and McGill Pain Questionnaire to maintain scores in 10-m Timed Walk 1.1m/sec throughout the first 4 weeks of treatment.

Long Term Goals

• Limit the speed of disease progression and limit any further symptoms with the exercise programs provided through patient education self-management strategies energy conservation post-treatment sessions and ONLS and CMT Neuropathy Score on the regularly used.
• Make your commute to class more comfortable and efficient using the planned walking route designed during your initial therapy session. This was determined by subjective history during subsequent treatment periods.
• Stay active and active to maintain physical fitness with prescribed exercise.

One of the main concerns of our patients is maintaining lower extremity strength. Although conditions such as CMT are progressive and may not increase strength, maintaining strength is important to optimize the patient’s functional independence and safety. this The strength program developed will be a progressive home program using ankle weights. Studies have shown that lower body exercises using ankle weights 3 days per week improve knee joint tone and increase type 1 fiber diameter [12]. Exercises will include resisting the ankle Hip-strengthening exercises such as dorsiflexion, valgus, and handstands, as well as abduction, flexion, and extension. It is also common for patients with CMT to have reduced peak oxygen consumption and exhibit reduced functional aerobic capacity, so we recommend and prescribe Perform aerobic exercise at approximately 70% of the patient’s maximum heart rate 3 days per week [12][13]. Education will also be an important component, especially regarding the importance of not overtraining, which can lead to overexertion [14]. Through our assessment, we also found some small balance deficits. Ultimately these may be due to strength in the lower extremities and will be addressed through the strength program, but ongoing balance assessments will be completed to assess fall risk and will be addressed if further decline in balance is found.

This may lead to increased tone and tightness of the gastrocnemius and soleus muscles and fibrosis of the Achilles tendon due to weakness of the ankle dorsiflexor muscles. These changes may place patients at high risk of developing ankle contractures [15]. for To avoid these changes and maintain adequate joint range of motion patients are prescribed at least 2 to 3 hours of standing or walking per day, as well as passive stretching exercises 2–3 times per day for structures at risk of contractures [15]. passive range of motion Exercise has been shown to be effective in delaying the development of CMT contractures [15].

While walking, a custom ankle-foot orthosis (AFO) was recommended because the patient expressed tripping issues attributable to foot drop and sensory deficits. For people with CMT, wearing an AFO has many benefits, including by reducing Energy costs of walking compared to wearing shoes only [16]. AFO has also been shown to increase gait speed, increase comfort, reduce pain, improve lower body control while walking and very importantly increase dorsiflexion, thereby reducing foot drop in CMT patients [7][17][18]. In addition to this recommendation, patients are provided with gait training and education to achieve normal gait biomechanics with the aim of reducing compensatory muscle recruitment and improving energy efficiency [19].

Since symptoms of muscle fatigue and weakness from overexertion are common findings in CMT, it was decided that education in energy-saving techniques would be one of the priorities during treatment [7]. Education includes advice on pacing your own activities and Make sure there are enough breaks to plan the most efficient walking routes around the campus and make sure he wears it after he receives a custom AFO to optimize his biomechanics and improve his walking efficiency. Unfortunately, patients are also advised to stop playing Competitive football in order to prioritize other activities of daily living from an energy cost point of view. Finally, because patients report difficulty sleeping and CMT is known to predispose patients to sleep conditions such as obstructive sleep apnea and restless legs Syndrome decided to refer the patient back to the family physician and advised the patient to see a sleep specialist [20].

Outcome

Using strength and cardio regimens our patients manage to maintain strength and fatigue. This was confirmed using manual muscle testing and the patient was found to have 3+/5 dorsiflexion bilaterally and a fatigue severity score of 47/63. ROM Exercise combined with 2–3 hours of daily standing or walking successfully prevented contractures of the patient’s gastrocnemius and Achilles tendons, and the patient reported no reduction in dorsiflexion ROM. This is confirmed by measuring the patient Maintain 14° of dorsiflexion. The patient will not be formally discharged because CMT is a progressive disease that requires progression and changes in treatment. Patients will be provided with self-management techniques and training methods for use at home. follow up Disease progression is assessed approximately every 3 months, outcome measures are retested, and new exercises and self-administration are prescribed to ensure maximum retention of function. No problems found in the upper extremities but will be monitored during follow-up using a dynamometric 9-hole peg test CMT Neuropathy Score ONLS to assess functional changes. However, the patient was referred to a clinic specializing in custom orthotics in order for him to obtain a custom AFO and was referred to his GP with a recommendation for a referral to sleep expert. These referrals are necessary to improve the patient’s mobility and participation impairments.

Discussion

An 18-year-old male with a recent diagnosis of CMT 1 was referred to us for physical therapy. One examination found problems with patients stumbling while playing football Intermittent pain and fatigue and visible muscle atrophy in daily life Reduced heat/cold Weakened sensory deep tendon reflexes Weakened right dorsiflexion Weakened bilateral strength and gait abnormalities (hip excursion trunk tilt and foot drop) informed our interventions. All defects are limited to the lower extremities, especially the lower legs ankles and feet, and no However progressed to the upper extremity, as indicated by the normal performance of the 9-hole nail test hand ergometer and the upper extremity portion of the ONLS. The FSS measures fatigue activity for daily life participation and sleep and found that a higher score of 49/63 indicated fatigue problem. The patient scored 12/36 on the CMT Neuropathy Scale measure of disability, which indicated that the patient was able to walk independently but required an AFO. This is supported by the fact that patients scored 2/7 on the ONLS lower extremity score because they were able to Able to walk independently, but the gait is abnormal. Referral to a sleep clinic and orthotic specialist was required as his sleep deprivation affected his daily life participation and activities and AFO has been shown to reduce pain, improve gait speed and improve overall function [16][17][18][19]. Physiotherapy interventions focus on maintaining function and mobility and, where possible, augmenting these areas by reducing pain and improving the patient’s quality of life. Initial training focused on maintaining aerobic capacity and muscle Balanced strength shown at a score of 81/96 on the CBMS was only slightly impaired, likely the result of progressive weakness, which could be addressed in subsequent sessions once strength had been optimized. Treatments such as gait training, range of motion and stretching are also given Average gait speed was maintained at a normal but slightly slower than 1.1 m/sec on the T10MW. For CMT or other neuromuscular disorders such as Guillain-Barré multiple sclerosis and amyotrophic lateral sclerosis, interventions should be aimed at slowing disease progression Optimize functionality wherever possible and educate patients on proper self-management techniques to increase their engagement and quality of life.