X-linked Charcot-Marie-Tooth disease type 1

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X-linked Charcot-Marie-Tooth disease type 1

Synonyms: CMT1X | CMTX1

X-linked Charcot-Marie-Tooth disease type 1 is a rare genetic peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive distal moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles pes cavus bilateral foot drop reduced or absent tendon reflexes as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

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 http://www.orphadata.org. Data version February 2024

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X-linked Charcot-Marie-Tooth disease type 1?

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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.