PT 858: Charcot-Marie-Tooth Disease Case Study

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Client Characteristics

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

Subjective

History of Present Illness

Past Medical History

Medications

Health Habits

Family History

Social History

Functional History

Current Functional Status

Objective

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

Neurological Assessment

Superficial Sensations

Light touch  

Pinprick

Deep Sensations

Proprioception

Vibration

Upper Motor Neuron Reflexes

Vitals

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Range of Motion

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Observational Gait Analysis

Outcome Measures