Charcot-Marie-Tooth disease type 4H

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Synonyms: CMT4H

Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe slowly progressive demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking) unsteady gait distal muscle weakness and atrophy (more prominent in the lower limbs) areflexia mild symmetrical stocking-distribution hypoesthesia and skeletal malformations (incl. kyphoscoliosis short neck pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.

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 June 2024

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Charcot-Marie-Tooth disease type 4H?

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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.

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Clinical Trials

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