Charcot-Marie-Tooth disease type 4C

MONDO:0011113

Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.

Also known as: CMT4C, Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2, Charcot-Marie-Tooth disease type 4C, SH3TC2 Charcot-Marie-Tooth disease type 4, CMT 4C, Charcot Marie Tooth disease type 4C, Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C, Charcot-Marie-Tooth disease, type 4C

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

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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! 7 Not yet recruiting 1 Completed 1

Charcot-Marie-Tooth disease type 4C

Broader categories

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