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tubular aggregate myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tubular aggregate myopathy

MONDO:0008051

Also known as:myopathy, tubular aggregate, type 1TAM1myopathy, tubular aggregate, 1

Overview

Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.

Diagnosis

Biomarker and diagnostic research for tubular aggregate myopathy 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.

No clinical trials have been registered for tubular aggregate myopathy.

88 publications have been identified in PubMed for tubular aggregate myopathy. Research spans Basic Science / Preclinical (49%), Case Report / Case Series (19%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Laboratory research	43	49%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2593

GARD

Genetic and Rare Diseases Info Center

GARD:3884

Questions for Your Care Team

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tubular aggregate myopathy

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

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