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spinocerebellar ataxia type 13 (SCA13) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Shrinkage of the cerebellum (cerebellar atrophy), Gait ataxia, and Limb ataxia; and very common findings: Dysarthria. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Dysarthria, Gait ataxia, Progressive cerebellar ataxia
Muscles	3	Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Damage to the optic nerve (optic atrophy)
Eyes	3	Nystagmus, Jerky ocular pursuit movements, Damage to the optic nerve (optic atrophy)
Arms and legs	2	Limb ataxia, Limb dysmetria
Ears	1	Hearing loss (hearing impairment)

GeneReviews

Clinical Guidance

The phenotypic spectrum of spinocerebellar ataxia type 13 (SCA13) originally clustered into two presentations: congenital-onset ataxia with little progression, typically accompanied by mild-to-moderate intellectual disability and occasionally seizures and adult-onset progressive ataxia . A rapidly progressive phenotype associated with adult onset (age 30 years) with fairly rapid (10-15 years) progression was described by .

Congenital-Onset Cerebellar Hypoplasia with Non-Progressive Cerebellar Ataxia

In all affected individuals:

Non-progressive limb, truncal, gait ataxia
Dysarthria
Tremor
Delayed gross and/or fine motor milestones
Cognitive impairment that is mild to moderate and relatively domain-specific to language
Gradual lifetime improvement in motor and cognitive function

Source: GeneReviews — "Spinocerebellar Ataxia Type 13"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for spinocerebellar ataxia type 13. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with congenital-onset non-progressive spinocerebellar ataxia type 13 or adult-onset progressive SCA13, the multidisciplinary evaluations summarized in and , respectively (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 2. Recommended Evaluations Following Initial Diagnosis in Individuals with Congenital-Onset Non-Progressive SCA13

System/Concern	Evaluation	Comment
Constitutional	Measure height, weight, head circumference.	To assess for FTT
Feeding	If frequent choking or severe dysphagia: assess nutritional status aspiration risk; evaluate for GERD.	Consider involving gastroenterologist / nutrition / feeding team.
Neurologic	Exam by neurologist for: history of known or suspected seizures, tremor, gait /or appendicular ataxia	Assessment by physical medicine, OT/PT
Musculoskeletal	Assess spine extremities, w/attn to hip joint abnormalities range of motion.	Motor delay /
Intellectual disability	Developmental assessment

Source: GeneReviews — "Spinocerebellar Ataxia Type 13"

GeneReviews

Clinical Guidance

Avoid alcohol and sedating drugs, which can exacerbate ataxia.

Source: GeneReviews — "Spinocerebellar Ataxia Type 13"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Spinocerebellar Ataxia Type 13"

Clinical Trials

1 trial found

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Surveillance by a multidisciplinary team is recommended for individuals with congenital-onset non-progressive SCA13 and individuals with adult-onset progressive SCA13 . Table 6. Recommended Surveillance for Individuals Congenital-Onset Non-Progressive SCA13

System/Concern	Evaluation	Frequency
Neurologic	Neurologic assessment	Annually or more often for an acute exacerbation Physical medicine, OT/PT assessment of mobility, self-help skills
Dysphagia	Assess aspiration risk.	As neurologic function improves consider advancing food consistency diet. Dysarthria
Recommended Surveillance for Individuals with Adult-Onset Progressive SCA13 System/Concern	Evaluation	Frequency
Neurologic	Neurologic assessment	Annually or more often for an acute exacerbation Physical medicine, OT/PT assessment of mobility, self-help skills Dysarthria
concerns	Social work psychology	As needed to assist w/adaptation compensation

Source: GeneReviews — "Spinocerebellar Ataxia Type 13"

Phenotype severity distribution: 3 always present features, 1 very common feature, 3 common features.

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.

17 publications have been identified in PubMed for spinocerebellar ataxia type 13. Research spans Case Report / Case Series (53%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Patient case studies	8	53%
Laboratory research	3	20%
Disease patterns and progression	2	13%
Research summaries	1	7%
New treatment approaches	1	7%

Recent Publications

Ma D (2026). [PMID: 42069089](https://pubmed.ncbi.nlm.nih.gov/42069089/). *Neurobiol Dis*. [Basic Science / Preclinical]
da Costa Urbano JC (2026). [PMID: 42050746](https://pubmed.ncbi.nlm.nih.gov/42050746/). *Am J Med Genet A*. [Case Report / Case Series]
Ahmad S (2026). [PMID: 41649149](https://pubmed.ncbi.nlm.nih.gov/41649149/). *Clin Dysmorphol*. [Case Report / Case Series]
Yin J (2025). [PMID: 40128944](https://pubmed.ncbi.nlm.nih.gov/40128944/). *Exp Anim*. [Basic Science / Preclinical]
Mastrangelo M (2025). [PMID: 40602760](https://pubmed.ncbi.nlm.nih.gov/40602760/). *Neuropediatrics*. [Case Report / Case Series]
Ahmad R (2025). [PMID: 40858856](https://pubmed.ncbi.nlm.nih.gov/40858856/). *Cerebellum*. [Gene Therapy / Novel Therapeutics]
Zhang Y (2025). [PMID: 40249242](https://pubmed.ncbi.nlm.nih.gov/40249242/). *FASEB J*. [Basic Science / Preclinical]
Mustafa F (2025). [PMID: 39576496](https://pubmed.ncbi.nlm.nih.gov/39576496/). *Acta Neurol Belg*. [Case Report / Case Series]
Abenza-Abildúa MJ (2025). [PMID: 40285998](https://pubmed.ncbi.nlm.nih.gov/40285998/). *Acta Neurol Belg*. [Case Report / Case Series]
Jimoh IJ (2025). [PMID: 39978794](https://pubmed.ncbi.nlm.nih.gov/39978794/). *Clin Genet*. [Epidemiology / Natural History]

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spinocerebellar ataxia type 13

Overview

Clinical Presentation

Clinical Guidance

Congenital-Onset Cerebellar Hypoplasia with Non-Progressive Cerebellar Ataxia

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

spinocerebellar ataxia type 13

Overview

Clinical Presentation

Clinical Guidance

Congenital-Onset Cerebellar Hypoplasia with Non-Progressive Cerebellar Ataxia

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team