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scapuloperoneal myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

scapuloperoneal myopathy

MONDO:0000727

Also known as:myopathy, scapuloperonealscapuloperoneal syndrome, myopathic type

Overview

A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Laing distal myopathy is characterized by muscle weakness and atrophy beginning in the lower legs . Onset is often before age five years. In a few children, onset has been so early as to delay walking. In two families, weakness was not recognized until the teenage years . In one family with 20 affected members, onset of lower-limb weakness occurred between early childhood and the fourth decade . Onset as late as the sixth decade has been described . More than 200 individuals have been identified with a pathogenic variant in MYH7 associated with Laing distal myopathy. The following description of the phenotypic features associated with this condition is based on the reports of , , and . Table 2. Laing Distal Myopathy: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Laing distal myopathy have been published.

Suggestive Findings

Laing distal myopathy should be considered in individuals with the following findings .

Clinical findings

Source: GeneReviews — "Laing Distal Myopathy"

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.

No approved treatments are currently available for scapuloperoneal myopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Laing distal myopathy have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Laing distal myopathy, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with Laing Distal Myopathy

System/Concern

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 myopathy.

60 publications have been identified in PubMed for scapuloperoneal myopathy. Research spans Basic Science / Preclinical (37%), Case Report / Case Series (25%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Laboratory research	22	37%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→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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Feature	% of Persons w/Feature	Comment
Lower leg muscle weakness atrophy	100%	—
Finger extensor weakness	100%	Variable time of onset
Mild facial weakness	80%	—
Neck flexor weakness	100%	—
Proximal muscle weakness	100%	—
Spinal manifestations	~30%	—
Cardiac problems	30%	Lower leg weakness follows a typical sequence: initially dorsiflexion of the ankle and great toe is affected and leads to a high-stepping gait, dropped big toe, and secondary tightening of the Achilles tendon .

Differential Diagnosis

Other disorders to consider in the differential diagnosis of Laing distal myopathy are indicated in this section. Congenital Myopathy The early onset of Laing distal myopathy means that any of the milder congenital myopathies may be a differential diagnosis . Table 4a. Congenital Myopathies of Interest in the Differential Diagnosis of Laing Distal Myopathy

Gene(s)	Disorder	MOI	Comment
MTM1	Centronuclear myopathy (CNM); e.g., CNM1 (OMIM 160150) XL myotubular myopathy	ADXL	Ptosis restriction of eye movements are common.
NEB	Distal nebulin myopathy 2 (OMIM 256030)	AR	Muscle biopsy shows nemaline bodies.
RYR1	Central core disease (OMIM 117000)	ADAR	Weakness is more proximal than distal, affecting hip girdle in particular; muscle biopsy shows central cores.
Distal Myopathies of Interest in the Differential Diagnosis of Laing Distal Myopathy Gene	Disorder1	MOI	Mean Age at Onset
MYH7	Laing distal myopathy	AD	5 yrs
Udd distal myopathy – tibial muscular dystrophy	AD	35 yrs	Anterior compartment in legs
GNE	GNE myopathy (Nonaka distal myopathy)	AR	20 yrs
TTN	Myofibrillar myopathies2 (OMIM PS601419)	ADAR	Mostly adulthood, rarely teens
DYS1	Miyoshi myopathy (See Dysferlinopathy.)	AR	Late teens, early adulthood
TIA1	Welander distal myopathy3 (OMIM 604454)	ADAR	40 yrs
ANO5	Distal anoctaminopathy (See ANO5 Muscle Disease.)	AR	20 yrs

Source: GeneReviews — "Laing Distal Myopathy"

Kisho

scapuloperoneal myopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Muscle weakness

Cardiomyopathy

Distal leg weakness

Cardiomyopathy

Kyphoscoliosis

Therapies Under Investigation

Clinical Trials

Recent Publications

scapuloperoneal myopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Muscle weakness

Cardiomyopathy

Distal leg weakness

Cardiomyopathy

Kyphoscoliosis

Therapies Under Investigation

Clinical Trials

Recent Publications