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spastic paraplegia 90A, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 90A, autosomal dominant

MONDO:0957308

Overview

GeneticsAutosomal dominant · SPTSSA (chr 14)

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 always present findings: Axial hypotonia, Sideways curvature of the spine (scoliosis), Delayed speech and language development, and Short stature and others; and common findings: Difficulty swallowing (dysphagia), Absent speech, Tethered cord, and Dystonia and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Difficulty swallowing (dysphagia), Absent speech, Delayed speech and language development

Genetic Landscape

SPTSSA function has not been fully characterized.

Spastic paraplegia 90A, autosomal dominant is associated with mutations in the SPTSSA gene on chromosome 14.

Diagnosis

Genetic testing for SPTSSA is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 10 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620416

Questions for Your Care Team

→Should I pursue genetic testing for SPTSSA, and what would the results mean for my family?
→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 paraplegia 90A, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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