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autosomal recessive limb-girdle muscular dystrophy type 2Q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive limb-girdle muscular dystrophy type 2Q

MONDO:0013390

Also known as:LGMD2Qautosomal recessive limb-girdle muscular dystrophy due to plectin deficiencymuscular dystrophy, limb-girdle, autosomal recessive 17

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Overview

A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.

GeneticsAutosomal recessive · PLEC (chr 8)

OnsetLATE

Clinical Trials2 registered · 2 recruiting

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: Skeletal muscle atrophy, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Generalized muscle weakness, and Flexion contracture and 6 more.

Organ System	Phenotype Count	Example Features
Muscles	7	Skeletal muscle atrophy, Generalized muscle weakness, Flexion contracture

Genetic Landscape

PLEC function has not been fully characterized.

Autosomal recessive limb-girdle muscular dystrophy type 2Q is associated with mutations in the PLEC gene on chromosome 8.

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.

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

Biomarker and diagnostic research for autosomal recessive limb-girdle muscular dystrophy type 2Q has been reported in the published literature.

Prognosis

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.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

11 publications have been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2Q. Research spans Review / Meta-Analysis (36%), Case Report / Case Series (36%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Research summaries	4

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 1:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613723

Orphanet

European rare disease database

Orphanet:254361

GARD

Genetic and Rare Diseases Info Center

GARD:12542

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→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

autosomal recessive limb-girdle muscular dystrophy type 2Q

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

autosomal recessive limb-girdle muscular dystrophy type 2Q

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications