Charcot-Marie-tooth disease (CMTD) Home A-Z Health Information Health Library A-Z Charcot-Marie-tooth Disease (CMTD) Overview CMTD is a hereditary neuropathy that affects the peripheral nerves, and has a prevalence of 1:2500 in general population. The inheritance pattern may be autosomal dominant, autosomal recessive, or X linked. Causes It is caused due to mutations in various genes Risk factors Family history is the only known factor. Symptoms Muscle weakness and atrophy of legs, ankle, and feetFoot deformities (high arches, hammertoes)Imbalance and difficulty in walkingNumbness in feet and legs Types CMT-1 : Mutation in peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2.CMT-2: Mitofusin 2, connexin 32CMT 3: Also known as Dejerine Sotas diseaseCMT 4Other variants of CMT are rare Specialist to approach Neurologist Diagnosis Clinical examination and through nerve conduction studies to determine demyelinating or axonal type of neuropathy, depending on the variant of CMTD; CMT 1 and 3 are demyelinating, whereas CMT 2 is axonal neuropathy. Treatment Physical therapy with exercise for maintaining muscle strengthAssistive devicesPain management and neurorehabilitationNo cure