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autosomal dominant limb-girdle muscular dystrophy type 1H - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant limb-girdle muscular dystrophy type 1H

MONDO:0013297

Also known as:LGMD1Hmuscular dystrophy limb-girdle type 1Hlimb-girdle muscular dystrophy type 1H

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Overview

Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

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 sometimes findings: Centrally nucleated skeletal muscle fibers. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	6	Centrally nucleated skeletal muscle fibers, Progressive muscle deterioration (muscular dystrophy), Enlarged calf muscles (calf muscle hypertrophy)

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

1 publication has been identified in PubMed for autosomal dominant limb-girdle muscular dystrophy type 1H. Research spans Review / Meta-Analysis (100%).

Recent Publications

Politano L (2024). [PMID: 38791328](https://pubmed.ncbi.nlm.nih.gov/38791328/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613530

Orphanet

European rare disease database

Orphanet:238755

GARD

Genetic and Rare Diseases Info Center

GARD:12532

Questions for Your Care Team

→Are any of the 1 active clinical trial 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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autosomal dominant limb-girdle muscular dystrophy type 1H

Overview

Clinical Presentation

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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