spinocerebellar ataxia type 38
Findings
No curated finding names spinocerebellar ataxia type 38 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.
Definition from the Mondo Disease Ontology (MONDO:0014417), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
17 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.
- AtaxiaHPOHP:0001251
- 9 of 9 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 7 of 7 reported patients
- Gait ataxiaHPOHP:0002066
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Limb ataxiaHPOHP:0002070
- 9 of 9 reported patients
- NystagmusHPOHP:0000639
- 8 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Dysarthria
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.
- ELOVL5HGNC:21308
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 38
- Also called
- SCA38