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Peripheral motor neuropathy-dysautonomia syndrome is characterized 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.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for peripheral motor neuropathy-dysautonomia syndrome.
1 publication has been identified in PubMed for peripheral motor neuropathy-dysautonomia syndrome. Research spans Review / Meta-Analysis (100%).
Bevilacqua JA (2026). [PMID: 42024697](https://pubmed.ncbi.nlm.nih.gov/42024697/). *Rev Med Chil*. [Review / Meta-Analysis]
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 10:41 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center