Autosomal dominant Charcot-Marie-Tooth disease type 2C

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Autosomal dominant Charcot-Marie-Tooth disease type 2C

Synonyms: CMT2C

A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy characterized by the association of vocal cord anomalies impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

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

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Autosomal dominant Charcot-Marie-Tooth disease type 2C?

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Advocacy Organizations

DYNC1H1 Association

Our mission is to improve the lives of people with mutations in the DYNC1H1 gene and to create opportunities for research on DYNC1H1 with a constant drive towards low-risk, high reward treatments. Our commitment to our community is to forge support networks within the diagnosed persons, providers, and outside community to make the wait for treatments easier.

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.

Precision Healthcare Ecosystem

Mission –  to transform healthcare toward a more collaborative model by amplifying patient and community voices through data-informed processes. Vision – a world of people empowered to realize optimal health. Purpose: To help people feel seen, heard, and respected so they feel empowered to take ownership of their health.

Clinical Trials

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