Charcot-Marie-Tooth disease- Type 2B2
Overview
Charcot-Marie-Tooth disease, Type 2B2: 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 2B2 has an autosomal dominant inheritance and involves a defect located on chromosome 19.
Symptoms
* Weak muscles in lower limbs * Wasted muscles in lower limbs * Loss of reflexes in lower limbs * High foot arch * Foot deformity
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.