Charcot-Marie-Tooth disease type 4B3
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 April 2024
Newly diagnosed with
Charcot-Marie-Tooth disease type 4B3?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
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
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.