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spinocerebellar ataxia type 18 (SCA18) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 18

MONDO:0011834

Also known as:SCA18SMNAsensorimotor neuropathy with ataxia autosomal dominant

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Overview

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.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Hyporeflexia, Skeletal muscle atrophy, Dysmetria, and Pes cavus and 9 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Hyporeflexia, Babinski sign, Sensory axonal neuropathy
Muscles

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for spinocerebellar ataxia type 18. Research spans Case Report / Case Series (29%), Review / Meta-Analysis (14%), and Clinical Trial Publication (14%).

Recent Publications

de Oliveira CA (2025). [PMID: 40981016](https://pubmed.ncbi.nlm.nih.gov/40981016/). *Pediatr Rep*. [Case Report / Case Series]
McNames J (2025). [PMID: 41107202](https://pubmed.ncbi.nlm.nih.gov/41107202/). *Lancet Digit Health*. [Clinical Trial Publication]
Sartorelli J (2025). [PMID: 40002489](https://pubmed.ncbi.nlm.nih.gov/40002489/). *Brain Sci*. [Case Report / Case Series]
Selvadurai LP (2025). [PMID: 41306821](https://pubmed.ncbi.nlm.nih.gov/41306821/). *Brain Commun*. [Epidemiology / Natural History]
Roy Choudhury N (2025). [PMID: 40016581](https://pubmed.ncbi.nlm.nih.gov/40016581/). *Cerebellum*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607458

Orphanet

European rare disease database

Orphanet:98771

GARD

Genetic and Rare Diseases Info Center

GARD:9976

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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spinocerebellar ataxia type 18

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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