adult-onset proximal spinal muscular atrophy, autosomal dominant
MONDO:0008453Mondo
Findings
No curated finding names adult-onset proximal spinal muscular atrophy, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Late young adult onset
HPO, annotations 2026-09-02
Features
24 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.
- FasciculationsHPOHP:0002380
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- 8 of 8 reported patients
- Muscle spasmHPOHP:0003394
- 7 of 8 reported patients
- Frequent (30% to 79% of cases)
- Proximal muscle weaknessHPOHP:0003701
- 7 of 8 reported patients
- Proximal amyotrophyHPOHP:0007126
- 6 of 8 reported patients
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Difficulty climbing stairsHPOHP:0003551
- Frequent (30% to 79% of cases)
- EMG: neuropathic changesHPOHP:0003445
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Gowers signHPOHP:0003391
- Frequent (30% to 79% of cases)
- Loss of ambulationHPOHP:0002505
- 1 of 8 reported patients · Middle age onset
- Frequent (30% to 79% of cases)
- Calf muscle hypertrophyHPOHP:0008981
- Occasional (5% to 29% of cases)
Reported absent (1)
- Bulbar signsHPOHP:0002483
Show the remaining 12
- Elevated circulating creatine kinase activityHPOHP:0003236
- Occasional (5% to 29% of cases)
- Joint stiffnessHPOHP:0001387
- Occasional (5% to 29% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- Occasional (5% to 29% of cases)
- MyotoniaHPOHP:0002486
- Occasional (5% to 29% of cases)
- Shuffling gaitHPOHP:0002362
- Occasional (5% to 29% of cases)
- TalipesHPOHP:0001883
- Occasional (5% to 29% 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.
- VAPBHGNC:12649
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: adult-onset proximal spinal muscular atrophy, autosomal dominant
- Also called
- autosomal dominant adult-onset proximal SMAautosomal dominant late-onset spinal muscular atrophy, Finkel typeFinkel disease