Charcot-Marie-Tooth disease dominant intermediate C
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.
MONDO:0019548
autosomal dominant intermediate Charcot-Marie-Tooth disease
is_a
CMTDIC
exact
Charcot-Marie-Tooth disease caused by mutation in YARS
exact
Charcot-Marie-Tooth disease dominant intermediate type C
exact
Charcot-Marie-Tooth disease, dominant Intermediate type C
exact
Charcot-Marie-Tooth disease, dominant intermediate C
related
DI-CMTC
exact
YARS Charcot-Marie-Tooth disease
exact
YARS-related intermediate Charcot-Marie-Tooth neuropathy
related
autosomal dominant intermediate Charcot-Marie-Tooth disease type C
exact
SPCC1672.05c