Charcot-Marie-Tooth Disease: A Case Study

Introduction

This is a case study on a male patient with Charcot-Marie-Tooth Disease. It will detail the assessment process of the patient, as well as the interventions used and the results of these interventions.

Client Characteristics

The patient is an 18 year old male Queen's University student and varsity soccer player. He was referred to physiotherapy by a neurologist with a recent diagnosis of Charcot-Marie-Tooth Disease but was previously very fit with no significant medical history. He spends most of his time in class or at soccer practices/games. The patient complains of difficulties walking to and from class and around campus/town as well as significant decreases in ability to play a full game of soccer due to foot drop, calf pain, and lower extremity muscle fatigue and weakness. He also indicates tripping often while walking/running and problems with shooting accuracy and cutting during soccer practices/games. Finally, the patient reports a progressive decrease in his ability to sleep.  

Clinical Impressions

PT Diagnosis: 18 year old male recently diagnosed with Charcot-Marie-Tooth Disease presenting with decreased muscle strength and endurance, increased muscle fatiguability, balance and sensory deficits, gait abnormalities, and pain in lower extremities. Condition is affecting patient’s ability to participate in sport and get to and from classes.

Problem list:

1. Decreased muscle strength and endurance
2. Increased muscle fatiguability
3. Minimal balance deficits
4. Gait abnormalities (tripping, foot drop, etc.)
5. Pain in lower extremities