/Charcot-Marie-Tooth disease X-linked dominant 6

Charcot-Marie-Tooth disease X-linked dominant 6

Rare Disease

MONDO:0010479

Also Known As

CMTX6Charcot-Marie-Tooth disease X-linked dominant type 6Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominantCharcot-Marie-Tooth disease, X-linked dominant, type 6Charcot-Marie-Tooth neuropathy X-linked dominant 6X-linked Charcot-Marie-Tooth disease type 6CMT6XCharcot-Marie-Tooth disease, X-linked dominant, 6Charcot-Marie-Tooth neuropathy, X-linked dominant, 6

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).