Charcot-Marie-Tooth disease type 4B3

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Synonyms: CMT4B3 | Charcot-Marie-Tooth disease with focally folded myelin

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing demyelinating sensorimotor neuropathy focally folded myelin sheaths in nerve biopsy reduced nerve conduction velocities (less than 38 m/s) and the typical CMT phenotype (i.e. distal muscle weakness and atrophy and sensory loss).

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 July 2024

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Charcot-Marie-Tooth disease type 4B3?

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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.

Hunters CMT4B3 Research Foundation Inc

Hunters CMT4B3 Research Foundation, a non-profit 501(c)3 public charity, was founded to fund, support and advance research including the development and production of therapeutic treatments for Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3) and other related inherited neuromuscular disorders. The mission of the foundation is to improve public awareness of CMT, advance education, develop gene therap

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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