Charcot-Marie-Tooth disease X-linked dominant 6
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).
MONDO:0018994
Charcot-Marie-Tooth disease type X
is_a
CMT6X
related
CMTX6
exact
Charcot-Marie-Tooth disease X-linked dominant type 6
exact
Charcot-Marie-Tooth disease, X-linked dominant, 6
related
Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant
exact
Charcot-Marie-Tooth disease, X-linked dominant, type 6
exact
X-linked Charcot-Marie-Tooth disease type 6
exact
SPBC1706.03 SPAC644.11c