Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to 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, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.
MONDO:0019548
autosomal dominant intermediate Charcot-Marie-Tooth disease
is_a
CMTDI1
exact
CMTDIB
exact
Charcot-Marie-Tooth disease caused by mutation in DNM2
exact
Charcot-Marie-Tooth disease dominant intermediate type B
exact
Charcot-Marie-Tooth disease, axonal type 2M
exact
Charcot-Marie-Tooth disease, dominant Intermediate type B
exact
Charcot-Marie-Tooth disease, dominant intermediate B
related
DI-CMTB
exact
DNM2 Charcot-Marie-Tooth disease
exact
DNM2-related intermediate Charcot-Marie-Tooth neuropathy
related