French, Romanian and Russian researchers, including experts from the Institute of Myology, report the clinical, histological and genetic findings of an adult diagnosed with muscular actinopathy:
- the 65-year-old patient lives in Russia and presented with a slowly progressive, fairly non-specific muscle weakness, although with a scapuloperoneal distribution;
- she had no associated cardiac or respiratory involvement;
- her first symptoms appeared around the age of 30;
- muscle imaging confirmed the fairly diffuse nature of the weakness, including in the axial musculature,
- muscle biopsy revealed core- and rod-like lesions,
- whilst genetic analysis revealed a heterozygous variant in the ACTA1 gene, the pathogenicity of which was subsequently confirmed by functional studies.
This observation joins a very small number of others already published worldwide.
