multiple system atrophy
Findings
No curated finding names multiple system atrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.
Definition from the Mondo Disease Ontology (MONDO:0007803), read 2026-09-29. CC BY 4.0.
Features
27 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.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Frequent (30% to 79% of cases)
- Abnormal brain FDG positron emission tomographyHPOHP:0012658
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormal rapid eye movement sleepHPOHP:0002494
- Frequent (30% to 79% of cases)
- Autonomic bladder dysfunctionHPOHP:0005341
- Frequent (30% to 79% of cases)
- Autonomic erectile dysfunctionHPOHP:0008652
- Frequent (30% to 79% of cases)
- Axial dystoniaHPOHP:0002530
- Frequent (30% to 79% of cases)
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- CamptocormiaHPOHP:0100595
- Frequent (30% to 79% of cases)
- Central sleep apneaHPOHP:0010536
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
Show the remaining 15
- Female anorgasmiaHPOHP:0030015
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
- Gaze-evoked nystagmusHPOHP:0000640
- Frequent (30% to 79% of cases)
- Orofacial dyskinesiaHPOHP:0002310
- Frequent (30% to 79% of cases)
- Orthostatic hypotension due to autonomic dysfunctionHPOHP:0004926
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COQ2HGNC:25223
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: multiple system atrophy
- Also called
- MSAmultisystem atrophyShy-Drager syndrome