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Charcot-Marie-Tooth disease type 4B1

MONDO:0011066

Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).

Also known as: CMT4B1, Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2, Charcot-Marie-Tooth disease type 4B1, MTMR2 Charcot-Marie-Tooth disease type 4, CMT 4B, CMT 4B1, Charcot Marie Tooth disease type 4B1, Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1

10 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! 8 Not yet recruiting 1 Completed 1
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