Sandhoff disease, adult form
MONDO:0017723Mondo
Findings
No curated finding names Sandhoff disease, adult form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Sandhoff disease that occurs in an adult.
Definition from the Mondo Disease Ontology (MONDO:0017723), read 2026-09-29. CC BY 4.0.
Features
19 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.
- Reduced beta-hexosaminidase B activityHPOHP:0033978
- Obligate (100% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Frequent (30% to 79% of cases)
- Sensory axonal neuropathyHPOHP:0003390
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- TremorHPOHP:0001337
- Frequent (30% to 79% of cases)
- Upper limb muscle weaknessHPOHP:0003484
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Occasional (5% to 29% of cases)
Show the remaining 7
- DystoniaHPOHP:0001332
- Occasional (5% to 29% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Occasional (5% to 29% of cases)
- FasciculationsHPOHP:0002380
- Occasional (5% to 29% of cases)
- Focal dystoniaHPOHP:0004373
- Occasional (5% to 29% of cases)
- Muscle fiber atrophyHPOHP:0100295
- Occasional (5% to 29% of cases)
- Muscle spasmHPOHP:0003394
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: Sandhoff disease, adult form
- Also called
- adult GM2 gangliosidosis 0 variantadult Sandhoff diseaseHexosaminidases A and B deficiency, adult formSandhoff disease of adults