Charcot-Marie-Tooth disease dominant intermediate D
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 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 axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
MONDO:0019548
autosomal dominant intermediate Charcot-Marie-Tooth disease
is_a
CMTDID
exact
Charcot Marie Tooth disease dominant intermediate 3
related
Charcot-Marie-Tooth disease caused by mutation in MPZ
exact
Charcot-Marie-Tooth disease dominant intermediate type D
exact
Charcot-Marie-Tooth disease, dominant Intermediate type D
exact
Charcot-Marie-Tooth disease, dominant intermediate D
related
DI-CMTD
exact
MPZ Charcot-Marie-Tooth disease
exact
MPZ-related intermediate Charcot-Marie-Tooth neuropathy
related
autosomal dominant intermediate Charcot-Marie-Tooth disease type D
exact