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progressive scapulohumeroperoneal distal myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progressive scapulohumeroperoneal distal myopathy

MONDO:0014800

Also known as:myopathy, scapulohumeroperonealSHPM

Overview

GeneticsAutosomal dominant · ACTA1 (chr 1)

ResearchLimited published research (1 article)

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: Increased connective tissue and Neck flexor weakness; and very common findings: Scapular winging and Wrist drop. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Progressive muscle weakness, Achilles tendon contracture, Skeletal muscle atrophy

Diagnosis

Genetic testing for ACTA1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very 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.

No clinical trials have been registered for progressive scapulohumeroperoneal distal myopathy.

1 publication has been identified in PubMed for progressive scapulohumeroperoneal distal myopathy. Research spans Review / Meta-Analysis (100%).

Recent Publications

Lee TM (2025). [PMID: 39922924](https://pubmed.ncbi.nlm.nih.gov/39922924/). *Pediatric research*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 11:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616852

Orphanet

European rare disease database

Orphanet:447977

GARD

Genetic and Rare Diseases Info Center

GARD:17779

Questions for Your Care Team

→Should I pursue genetic testing for ACTA1, 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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progressive scapulohumeroperoneal distal myopathy

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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