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

Rare Disease

autosomal dominant limb-girdle muscular dystrophy type 1F

MONDO:0012034

Also known as:LGMD1Fmuscular dystrophy limb-girdle type 1Fmuscular dystrophy, limb-girdle, autosomal dominant 2

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Overview

Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.

GeneticsAutosomal dominant · TNPO3 (chr 7)

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 always present findings: Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, and Elevated circulating creatine concentration; and very common findings: Distal muscle weakness. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Centrally nucleated skeletal muscle fibers, Difficulty climbing stairs, Progressive muscle deterioration (muscular dystrophy)

Genetic Landscape

TNPO3 function has not been fully characterized.

Autosomal dominant limb-girdle muscular dystrophy type 1F is associated with mutations in the TNPO3 gene on chromosome 7.

Diagnosis

Genetic testing for TNPO3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 2 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.

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 1F. Research spans Review / Meta-Analysis (100%).

Recent Publications

Mohan S (2024). [PMID: 39215466](https://pubmed.ncbi.nlm.nih.gov/39215466/). *Ann Clin Transl Neurol*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608423

Orphanet

European rare disease database

Orphanet:55595

GARD

Genetic and Rare Diseases Info Center

GARD:12530

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for TNPO3, 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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autosomal dominant limb-girdle muscular dystrophy type 1F

Overview

Clinical Presentation

Genetic Landscape

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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