PT 858: Charcot-Marie-Tooth Disease Case Study
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Abstract[edit | edit source]
Introduction[edit | edit source]
Client Characteristics[edit | edit source]
The patient is a 25-year-old male who is completing his Master of Science in Chemistry at a Canadian university in Ontario. He was diagnosed with X-linked CMT type 1A by a neurologist at the at of 14. The patient has had an increased amount of ankle sprains in the past 6 months, with the most recent one being around 3 weeks ago, in addition to general pain on the dorsum of the foot, and self-referred to physiotherapy for treatment.
Examination Findings[edit | edit source]
Subjective[edit | edit source]
History of Present Illness
Past Medical History
Medications
Health Habits
Family History
Social History
Functional History
Current Functional Status
Objective[edit | edit source]
Observation
- Mild (R) mid-thoracic scoliosis
- UE muscle tone appears normal
- Bilateral pes cavus, more extreme arch of (R) foot, varus heel angle from posterior POV
- Bilateral hammer toes
- Distal mild muscle wasting of bilateral lower legs, stork inverted champagne bottle appearance notable on anterio-lateral leg
Range of Motion
Upper Extremity - All joints within normal limits for passive and active range
Lower Extremity - Hip extension: 14 degrees (R), 16 degrees (L); Ankle Dorsiflexion: 5 degrees (R), 6 degrees (L)
***all end feels normal
Manual Muscle Testing
| Grade /5 (R) | Grade /5 (L) | |
| Hip Extension | 4+ | 4+ |
| Hip Flexion | 4 | 4 |
| Knee Extension | 5 | 5 |
| Knee Flexion | 4+ | 5 |
| Ankle Dorsiflexion | 3 | 3+ |
| Ankle Plantar Flexion | 4 | 4 |
| Ankle Inversion | 3+ | 3+ |
| Ankle Eversion | 5 | 5 |
Specific Muscle Strength Testing: determined tibialis anterior, extensor digitorum longus and extensor hallicus longus are primarily responsible for decreased strength of foot dorsiflexors and inverters
Neurological Assessment
Dermatomes: no deficits above the knee bilaterally. Below the knee does not follow a specific dermatomal pathway - altered sensation in L4-S1 below knee bilaterally. Patient presents with a stocking pattern.
UMN: Babinski (-), Hoffman’s (-), Oppenheimer’s (-)
LMN/Deep Tendon Reflexes:
- C6: Biceps/brachioradialis – 2 (normal)
- C7: Triceps – 2 (normal)
- L3L4: Patellar Tendon – 2 (normal)
- S1S2: Achilles Tendon – 1 (hyporeflexia)
Special Tests: Upper Extremity - Spurlings (-), Distraction (-), Vertebral Artery (-); Lower Extremity - Slump (-), Straight Leg Raise (-)
Superficial Sensations
Light touch
Pinprick
Deep Sensations
Proprioception
Vibration
Upper Motor Neuron Reflexes
Observational Gait Analysis
Outcome Measures
