spinocerebellar ataxia type 40
Findings
No curated finding names spinocerebellar ataxia type 40 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
Definition from the Mondo Disease Ontology (MONDO:0014475), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Slowly progressive
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.
- DysmetriaHPOHP:0001310
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Pontocerebellar atrophyHPOHP:0006879
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Scanning speechHPOHP:0002168
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Broad-based gaitHPOHP:0002136
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 1 of 2 reported patients
Show the remaining 5
- Unsteady gaitHPOHP:0002317
- Frequent (30% to 79% of cases)
- Vertical supranuclear gaze palsyHPOHP:0000511
- Frequent (30% to 79% of cases)
- Ankle clonusHPOHP:0011448
- 1 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- TremorHPOHP:0001337
- 1 of 2 reported patients
Genes
2 genes
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.
- CCDC88CHGNC:19967
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- CCDC8HGNC:25367
- Limited · Illumina · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 40
- Also called
- SCA40