X-linked Charcot-Marie-Tooth disease type 4

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X-linked Charcot-Marie-Tooth disease type 4

Synonyms: CMT4X | CMTX4 | Cowchock syndrome

X-linked Charcot-Marie-Tooth disease type 4 is a rare genetic axonal peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe slowly progressive distal muscle weakness and atrophy (in particular of the peroneal group) as well as sensory impairment (with the lower extremities being more affected than the upper extremities) pes cavus areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.

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 December 2023

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X-linked Charcot-Marie-Tooth disease type 4?

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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.