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Definition

A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood.

Acronym

CMTX4

Synonyms

Axonal motor-sensory neuropathy with deafness and mental retardation
Charcot-Marie-Tooth disease with deafness and mental retardation
Charcot-Marie-Tooth disease X-linked recessive 4
Cowchock syndrome
COWCK
NADMR
NAMSD

Keywords

Charcot-Marie-Tooth disease
Deafness
Neurodegeneration
Mental retardation

 
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