Charcot-Marie-Tooth disease- Type 4B2- with early-onset glaucoma


Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma: 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. This type is characterized by the involvement of glaucoma which starts during childhood.


* Progressive distal lower limb weakness * Progressive distal lower limb wasting * Progressive distal upper limb weakness * Progressive distal upper limb wasting * Loss of sensation in limbs


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.