Charcot-Marie-Tooth disease type 1F

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Charcot-Marie-Tooth disease type 1F

Synonyms: CMT1F

Charcot-Marie-Tooth disease type 1F (CMT1F) is 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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Charcot-Marie-Tooth disease type 1F?

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Advocacy Organizations

Hereditary Neuropathy Foundation

Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization which mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures.

Clinical Trials

For a list of clinical trials in this disease area, please click here.