peripheral motor neuropathy-dysautonomia syndrome
Findings
No curated finding names peripheral motor neuropathy-dysautonomia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009648), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AchalasiaHPOHP:0002571
- Very frequent (80% to 99% of cases)
- AcrocyanosisHPOHP:0001063
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- HyporeflexiaHPOHP:0001265
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophy
Where it sits
- A kind of
Other names
1 name
Resolves to: peripheral motor neuropathy-dysautonomia syndrome
- Also called
- Lisker-Garcia-Ramos syndrome