Charcot Marie-tooth CMT

Charcot Marie-tooth CMT👉🏿1 in 2500 in USA👉🏿Starts in teens / Adelson 👉🏿 Mostly autosomal dominant but lots of variations 
S/S👉🏿Ist high arch foot, hammertoes : Pes cavus (high arch), Hammer toe👉🏿Distal WEAKNESS / wasting👉🏿Legs then hand weakness 👉🏿Sensory / motor PN👉🏿Unstable ankle
👉🏿Scoliosis👉🏿Absent DTR👉🏿Severe neuropathic pain👉🏿High stepping gait
Types:CMT 1: One and three cases, 5 to 25 years of age, faulty Jean, sign in simple service missing lots of sensation or numbness. CMT 2: 17%, axonal damage, CMT 3 : Dejerine-Sottas dis, severe weakness due to Mylan sheath damage. Starts in infancy. CMT 4: rare, Myelin sheath damage, starts in childhood,. CMTX:X chromosome mutation common in malesHammer toes,

Dx : genetic & NCV, Axonal / demyelination. ? Nerve biopsy

Rx: NSAIDs, tricyclic antidepressant, PT/OT, assistive devices, cognitive behavioral therapy, surgery

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