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scapuloperoneal spinal muscular atrophy, autosomal recessive - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

scapuloperoneal spinal muscular atrophy, autosomal recessive

MONDO:0010058

Also known as:spinal muscular atrophy, scapuloperoneal

Overview

GeneticsAutosomal recessive

Treatments3 FDA approved, incl. 1 gene therapy

Clinical Presentation

Features include: Peroneal muscle atrophy, Spinal muscular atrophy, and Scapular muscle atrophy.

Organ System	Phenotype Count	Example Features
Muscles	3	Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy

Explore clinical features

Diagnosis

Biomarker and diagnostic research for scapuloperoneal spinal muscular atrophy, autosomal recessive 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 scapuloperoneal spinal muscular atrophy, autosomal recessive, including NUSINERSEN (SPINRAZA, approved 2016), onasemnogene abeparvovec-xioi (Zolgensma, approved 2019), and RISDIPLAM (EVRYSDI, approved 2020).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved

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 scapuloperoneal spinal muscular atrophy, autosomal recessive.

108 publications have been identified in PubMed for scapuloperoneal spinal muscular atrophy, autosomal recessive. Research spans Case Report / Case Series (21%), Epidemiology / Natural History (21%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	23	21%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271220

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 scapuloperoneal spinal muscular atrophy, autosomal recessive?
→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

scapuloperoneal spinal muscular atrophy, autosomal recessive

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Treatment

Approved Therapies

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

scapuloperoneal spinal muscular atrophy, autosomal recessive

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Treatment

Approved Therapies

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications