Charcot-Marie-Tooth disease- Type 2K
Overview
Charcot-Marie-Tooth disease, Type 2K: 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 2K has an autosomal dominant inheritance and involves a defect on chromosome 8.
Symptoms
* Muscle weakness in extremities * Muscle wasting in extremities * Foot deformity * Abnormal gait * Hypotonia at birth
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.