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 September 2024
Newly diagnosed with
Autosomal dominant Charcot-Marie-Tooth disease type 2U?
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Advocacy Organizations
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.
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.
Precision Healthcare Ecosystem
Disease agnostic, serving chronic, challenged or undiagnosed patients. Purpose: To help people feel seen, heard, and respected so they feel empowered to take ownership of their health. Vision – a world of people empowered to realize optimal health. Mission – to transform healthcare by amplifying patient and community voices through data-informed processes toward a collaborative care model.
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.