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Charcot-Marie-Tooth disease dominant intermediate D

MONDO:0011909

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.

Also known as: CMTDID, Charcot-Marie-Tooth disease caused by mutation in MPZ, Charcot-Marie-Tooth disease dominant intermediate type D, Charcot-Marie-Tooth disease, dominant Intermediate type D, DI-CMTD, MPZ Charcot-Marie-Tooth disease, autosomal dominant intermediate Charcot-Marie-Tooth disease type D, Charcot Marie Tooth disease dominant intermediate 3

10 clinical trials for this condition and its sub-types.

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Sub-types

Charcot-Marie-Tooth disease type 1B (2) Charcot-Marie-Tooth disease type 2J (1) Charcot-Marie-Tooth disease type 2I (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Peripheral nervous system disorder (107) Neuromuscular disease (98) Peripheral neuropathy (90) Charcot-Marie-Tooth disease (43) Human disease (14) Hereditary peripheral neuropathy (6) Hereditary neurological disease (5)
Trials to join now! 8 Not yet recruiting 1 Completed 1
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