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spinal muscular atrophy, segmental - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

spinal muscular atrophy, segmental

MONDO:0008455

Overview

GeneticsAutosomal dominant

Treatments3 FDA approved, incl. 1 gene therapy

ResearchLimited published research (4 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: Abnormal anterior horn cell morphology, Hand muscle atrophy, and Segmental spinal muscular atrophy.

Organ System	Phenotype Count	Example Features
Muscles	2	Hand muscle atrophy, Segmental spinal muscular atrophy
Arms and legs

Diagnosis

Biomarker and diagnostic research for spinal muscular atrophy, segmental has been reported in the published literature.

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.

3 FDA-approved treatments are available for spinal muscular atrophy, segmental, including NUSINERSEN (SPINRAZA, approved 2016), onasemnogene abeparvovec-xioi (Zolgensma, approved 2019), and RISDIPLAM (EVRYSDI, approved 2020).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

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.

No clinical trials have been registered for spinal muscular atrophy, segmental.

4 publications have been identified in PubMed for spinal muscular atrophy, segmental. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Sowoidnich L (2026). [PMID: 42039583](https://pubmed.ncbi.nlm.nih.gov/42039583/). *bioRxiv*. [Basic Science / Preclinical]
Desai AB (2025). [PMID: 39636751](https://pubmed.ncbi.nlm.nih.gov/39636751/). *Radiographics : a review publication of the Radiological Society of North America, Inc*. [Review / Meta-Analysis]
Sterba A (2025). [PMID: 39652076](https://pubmed.ncbi.nlm.nih.gov/39652076/). *Neurologia i neurochirurgia polska*. [Diagnostic / Biomarker]
Dos Santos IR (2024). [PMID: 38884867](https://pubmed.ncbi.nlm.nih.gov/38884867/). *Veterinary research communications*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:183020

Questions for Your Care Team

→What are the eligibility criteria and monitoring requirements for Zolgensma?
→What are the benefits and potential side effects of SPINRAZA for managing spinal muscular atrophy, segmental?
→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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Kisho

spinal muscular atrophy, segmental

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

spinal muscular atrophy, segmental

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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