Peripheral motor neuropathy-dysautonomia syndrome

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Synonyms: Lisker-Garcia-Ramos syndrome

Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal slowly progressive muscular weakness childhood-onset amyotrophy autonomic dysfunction characterized by profuse sweating distal cyanosis related to cold weather orthostatic hypotension and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.

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 July 2024

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Advocacy Organizations

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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