Charcot-Marie-Tooth disease- Type 2F
Overview
Charcot-Marie-Tooth disease, Type 2F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2F has an autosomal dominant inheritance and involves a defect in the HSPB1 gene on chromosome 7.
Symptoms
* Progressive weakness of lower limb muscles * Progressive wasting of lower limb muscles * Foot drop * Abnormal gait * Wasting of upper limb muscles
Diagnosis
A definitive diagnosis for a specific type of CMT is established via genetic testing for most types. However, some genetic markers have not yet been identified, and a diagnosis can also be established via an electromyography examination (which shows that the velocity of nerve impulse conduction is decreased and the time required to charge the nerve is increased) and nerve biopsy.