Synonyms: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation | CMT2U
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive axonal peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy in conjunction with distal panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been 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 April 2026
Newly diagnosed with
Autosomal dominant Charcot-Marie-Tooth disease type 2U?
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Advocacy Organizations
Charcot-Marie-Tooth Association
Our mission … to support the development of new treatments for CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision … a world without CMT. CMTA was started by patients in 1986, and to this day is powered by a community of patients who are engaged in helping carry out and support our mission.
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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.