X-linked Charcot-Marie-Tooth disease type 3

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X-linked Charcot-Marie-Tooth disease type 3

Synonyms: CMT3X | CMTX3

X-linked Charcot-Marie-Tooth disease type 3 is a rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities) as well as distal pansensory loss in the upper and lower extremities pes cavus and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign hyperactive deep-tendon reflexes and Babinski sign) has 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 April 2024

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X-linked Charcot-Marie-Tooth disease type 3?

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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.