spinocerebellar ataxia 43
Findings
No curated finding names spinocerebellar ataxia 43 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.
Definition from the Mondo Disease Ontology (MONDO:0014867), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Slowly progressive
HPO, annotations 2026-09-02
Features
28 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
- 6 of 7 reported patients
- Postural instabilityHPOHP:0002172
- 6 of 7 reported patients
- Sensorimotor neuropathyHPOHP:0007141
- 6 of 7 reported patients
- Frequent (30% to 79% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Very frequent (80% to 99% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- Very frequent (80% to 99% 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.
- MMEHGNC:7154
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: spinocerebellar ataxia 43
- Also called
- autosomal dominant cerebellar ataxia caused by mutation in MMEMME autosomal dominant cerebellar ataxiaSCA43spinocerebellar ataxia 43; SCA43spinocerebellar ataxia type 43