Impact of Customized and Sustained Physiotherapy in Charcot-Marie-Tooth Disease

Abstract

Charcot-Marie-Tooth (CMT) disease is the most inherited form of peripheral neuropathy. This condition is also known as hereditary motor and sensory neuropathy (HMSN), which is a slowly progressive neuropathy affecting peripheral nerves and causes sensory loss, weakness and muscle wasting. This primarily involves distal muscles of feet, lower legs, hands and forearm. CMT is the most frequently inherited peripheral neuropathy known to affect 1 in 2500 individuals. There are four types: CMT1, CMT2, CMT3 and CMT4, depending upon the involvement of specific gene deficit, inheritance pattern, age of onset and whether the primary defect results in an abnormality of the myelin or axon of the nerve. Diagnosis of CMT is done based on physical examination, genetic testing, and electromyography (EMG) and nerve conduction velocity (NCV) test results. Symptoms of weakness progress from distal to proximal, i.e., it begins from feet and ankles. CMT is a known length dependent neuropathy which results in foot drop and later weakness of hands and forearm becomes evident. Due to the involvement of sensory nerve fibres, sensations like heat, touch, pain and most prominently vibration is also present distally. Long standing effects of CMT leads to the development of deformity and/or contractures which may involve forefoot, hindfoot, toes and/or long finger flexors. As physiotherapy is a means to maintain and/or gain maximum possible functional independence, consistency of the treatment becomes the most important factor. This case report intends to show that consistency in performing physiotherapeutic exercises helps in gaining maximum possible functional independence. This case report is a discussion of a 25-year-old male patient referred to the physiotherapy department with the polyneuropathy type symptoms with his history and investigation reports being consistent with that of Charcot-Marie-Tooth disease.