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alpha-actinopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

alpha-actinopathy

MONDO:0100084

Also known as:actin myopathyactinopathyACTA1 disease

Overview

A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.

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 alpha-actinopathy.

13 publications have been identified in PubMed for alpha-actinopathy. Research spans Basic Science / Preclinical (62%), Review / Meta-Analysis (15%), and Case Report / Case Series (8%).

Research Type	Count	% of Total
Laboratory research	8	62%

Data assembled from 2 of 12 sources · Last updated Oct 3, 2026, 8:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

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alpha-actinopathy

Overview

Research Landscape

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