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Charcot-Marie-Tooth disease dominant intermediate D

Disease Summary
Associated Targets (8)
Tbio

7

Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
Mondo Term and Equivalent IDs
MONDO:0011909:  Charcot-Marie-Tooth disease dominant intermediate D
GARD:0009207: 
MESH:C564333: 
Orphanet:100046: 
SCTID:765747004: 
UMLS:C1843075: