alpha-actinopathy
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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0016139
qualitative or quantitative protein defects in neuromuscular diseases
is_a
MONDO:0019952
congenital myopathy
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MONDO:0100545
hereditary neurological disease
is_a
ACTA1 disease
exact
actin myopathy
broad
actinopathy
broad
alpha actinopathy
exact
alpha-actinopathy
exact
SPBC32H8.12c