spinocerebellar ataxia type 34
Findings
No curated finding names spinocerebellar ataxia type 34 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
Definition from the Mondo Disease Ontology (MONDO:0007574), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · 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.
- DysarthriaHPOHP:0001260
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Limb ataxiaHPOHP:0002070
- 9 of 9 reported patients
- NystagmusHPOHP:0000639
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- DysdiadochokinesisHPOHP:0002075
- Very frequent (80% to 99% of cases)
Show the remaining 12
- UrticariaHPOHP:0001025
- Very frequent (80% to 99% of cases)
- ErythrodermaHPOHP:0001019
- 14 of 19 reported patients
- HyperkeratosisHPOHP:0000962
- 14 of 19 reported patients
- Cerebellar atrophyHPOHP:0001272
- 6 of 9 reported patients
- Gait ataxiaHPOHP:0002066
- 12 of 19 reported patients
- Abnormality of movementHPOHP:0100022
- 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.
- ELOVL4HGNC:14415
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: spinocerebellar ataxia type 34
- Also called
- Erythrokeratodermia with AtaxiaSCA34spinocerebellar ataxia and erythrokeratodermia