X-linked Charcot-Marie-Tooth disease type 5

Get in touch with RARE Concierge.

Contact RARE Concierge

X-linked Charcot-Marie-Tooth disease type 5

Synonyms: CMT5X | CMTX5

A rare form of X-linked Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy characterized by infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance 2) bilateral profound prelingual sensorineural hearing loss and 3) progressive optic neuropathy.

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 March 2024

Newly diagnosed with
X-linked Charcot-Marie-Tooth disease type 5?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

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