Charcot-Marie-Tooth disease type 2H
Synonyms: AR-CMT2C | Autosomal recessive axonal CMT4C2 | Axonal Charcot-Marie-Tooth disease with pyramidal involvement | CMT2H
Charcot-Marie-Tooth disease type 2H (CMT2H also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Charcot-Marie-Tooth disease type 2H?
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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.
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
For a list of clinical trials in this disease area, please click here.