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GENATLAS PHENOTYPE

last update : 12-04-2018

Symbol	DICMT2
Location	1p13.1
Name	dominant intermediate Charcot-Marie-Tooth neuropathy 2
Other name(s)	Charcot-Marie-Tooth disease, axonal, type 2DD
Corresponding gene	ATP1A1
Other symbol(s)	CMT2DD
Main clinical features	dominant axonal to intermediate CMT, classic axonal to intermediate length-dependent degeneration of motor and sensory peripheral nerves age of symptom onset was variable, ranging from childhood to adult, even within the same family sensorimotor neuropathy mainly affecting the lower limbs patients remain ambulatory even late in the disease, although some may require orthotic devices
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)