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Charcot-Marie-Tooth disease type 1F

MONDO:0011902

A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..

Also known as: CMT1F, Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL, Charcot-Marie-Tooth disease, type 1F, NEFL Charcot-Marie-Tooth disease type 1, CMT 1F, Charcot Marie Tooth disease type 1F, Charcot-Marie-Tooth disease, demyelinating, type 1F, Charcot-Marie-Tooth neuropathy, type 1F

27 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! 11 Not yet recruiting 4 Not yet finished but already full! 8 Completed 4
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