alpha-actinopathy

alpha-actinopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

This disorder is associated with pathogenic variants in the skeletal muscle α-actin gene (ACTA1). It can present with a variety of symptoms including muscle weakness, hypotonia, and respiratory dysfunction. The inheritance pattern is predominantly autosomal dominant, affecting approximately 90% of cases.

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of inherited conditions. Connecting with rare disease registries and online patient communities may provide additional support and resources.