Scapuloperoneal myopathy

Summary

Scapuloperoneal myopathy (MONDO:0000727) is a disease. A subtype of Emery-Dreifuss muscular dystrophy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	scapuloperoneal myopathy
Mondo ID	MONDO:0000727
MeSH	C536624
DOID	DOID:0060253
UMLS	C2931268
MedGen	419759
GARD	0022820
Is cancer (heuristic)	no

Also known as: myopathy, scapuloperoneal · scapuloperoneal syndrome, myopathic type

Disease family

This is a subtype of Emery-Dreifuss muscular dystrophy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › skeletal muscle disorder › myopathy › muscular dystrophy › progressive muscular dystrophy › Emery-Dreifuss muscular dystrophy › scapuloperoneal myopathy

Related subtypes (3): X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, autosomal dominant Emery-Dreifuss muscular dystrophy

Subtypes (2): congenital myopathy 7A, myosin storage, autosomal dominant, X-linked scapuloperoneal muscular dystrophy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.