spinocerebellar ataxia type 18
Findings
No curated finding names spinocerebellar ataxia type 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.
Definition from the Mondo Disease Ontology (MONDO:0011834), read 2026-09-29. CC BY 4.0.
Features
18 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.
- AreflexiaHPOHP:0001284
- Very frequent (80% to 99% of cases)
- Gait ataxiaHPOHP:0002066
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Somatic sensory dysfunctionHPOHP:0003474
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Hyporeflexia of lower limbsHPOHP:0002600
- Frequent (30% to 79% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Frequent (30% to 79% of cases)
- Muscle fibrillationHPOHP:0010546
- Frequent (30% to 79% of cases)
- Pes cavusHPOHP:0001761
- Frequent (30% to 79% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Frequent (30% to 79% of cases)
Show the remaining 6
- Cerebellar atrophyHPOHP:0001272
- Occasional (5% to 29% of cases)
- Head tremorHPOHP:0002346
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
- Peripheral axonal neuropathyHPOHP:0003477
- Occasional (5% to 29% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Occasional (5% to 29% of cases)
- TitubationHPOHP:0030187
- Occasional (5% to 29% 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.
- IFRD1HGNC:5456
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 18
- Also called
- SCA18