X-linked Charcot-Marie-Tooth disease type 6

Orpha code: 352675OMIM code: 300905

Definition

X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).

Disease data
Classification

Disease

Synonyms
CMT6X
CMT6X
CMTX6
CMTX6
ORPHA code
352675
OMIM code
300905
ICD10 code
G60.0
ICD11 code
-

No additional description.

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