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spastic ataxia 7 (SPAX7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic ataxia 7

MONDO:0007165

Also known as:SPAX7autosomal dominant spastic ataxia type 7spastic ataxia type 7

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Overview

Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

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 sometimes findings: Damage to the optic nerve (optic atrophy). 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Spastic ataxia, Babinski sign, Dysarthria
Eyes

Diagnosis

Biomarker and diagnostic research for spastic ataxia 7 has been reported in the published literature.

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.

20 publications have been identified in PubMed for spastic ataxia 7. Research spans Clinical Trial Publication (25%), Epidemiology / Natural History (20%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Clinical study results	5	25%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:108650

Orphanet

European rare disease database

Orphanet:1182

GARD

Genetic and Rare Diseases Info Center

GARD:16560

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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spastic ataxia 7

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

spastic ataxia 7

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications