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nemaline myopathy 5 (ANM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nemaline myopathy 5

MONDO:0011539

Also known as:ANMAmish nemaline myopathyNEM5

Find Clinical TrialsTrials

Overview

Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.

GeneticsAutosomal recessive · TNNT1 (chr 19)

OnsetNEONATAL

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (5 articles)

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: Progressive muscle weakness, Myopathy, Hip contracture, and Decreased hip abduction and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	6	Progressive muscle weakness, Myopathy, Shoulder flexion contracture

Genetic Landscape

TNNT1 function has not been fully characterized.

Nemaline myopathy 5 is caused by mutations in the TNNT1 gene on chromosome 19.

Diagnosis

Genetic testing for TNNT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present 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.

5 publications have been identified in PubMed for nemaline myopathy 5. Research spans Basic Science / Preclinical (80%) and Case Report / Case Series (20%).

Recent Publications

Laarne M (2025). [PMID: 40397026](https://pubmed.ncbi.nlm.nih.gov/40397026/). *J Neuromuscul Dis*. [Case Report / Case Series]
Moreno-Justicia R (2025). [PMID: 39971958](https://pubmed.ncbi.nlm.nih.gov/39971958/). *Nat Commun*. [Basic Science / Preclinical]
Feng HZ (2025). [PMID: 40569886](https://pubmed.ncbi.nlm.nih.gov/40569886/). *FEBS J*. [Basic Science / Preclinical]
Seaborne RAE (2025). [PMID: 40320980](https://pubmed.ncbi.nlm.nih.gov/40320980/). *J Physiol*. [Basic Science / Preclinical]
Laitila J (2025). [PMID: 40320982](https://pubmed.ncbi.nlm.nih.gov/40320982/). *J Physiol*. [Basic Science / Preclinical]

Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605355

Orphanet

European rare disease database

Orphanet:98902

GARD

Genetic and Rare Diseases Info Center

GARD:8334

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 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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nemaline myopathy 5

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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