Autosomal dominant Charcot-Marie-Tooth disease type 2DD

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Synonyms: ATP1A1-related CMT2 | ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 | CMT2DD

A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy decreased or absent tendon reflexes and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia tremor or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood with earlier onset tending to be associated with a more severe disease phenotype.

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 Data version July 2024

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

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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.

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.

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

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