Autosomal recessive nemaline myopathy (ARNM) refers to a rare genetic disorder characterized by muscle weakness and decreased muscle tone, resulting from the presence of nemaline bodies within skeletal muscle fibers. Nemaline bodies are small thread-like structures that disrupt muscle function, leading to the skeletal muscle abnormalities observed in affected individuals.
ARNM follows an autosomal recessive inheritance pattern, indicating that both copies of the causative gene must be mutated for the disease to manifest. Typically, unaffected parents of an affected individual each carry a single copy of the mutated gene and are referred to as carriers.
Symptoms of autosomal recessive nemaline myopathy include generalized muscle weakness, poor muscle tone (hypotonia), and delayed motor milestones such as sitting and walking. Muscle weakness often affects the muscles of the face, throat, and limbs, making it difficult for individuals to perform everyday tasks and can also lead to respiratory and feeding difficulties.
Diagnosis of ARNM involves clinical evaluation, assessment of muscle function, and potentially genetic testing to identify mutations in the genes associated with nemaline myopathy. Management of the condition often focuses on addressing the specific symptoms and providing supportive care, such as physical and occupational therapy to improve motor skills and muscle strength.
While there is currently no cure for ARNM, ongoing research aims to develop novel treatment approaches and potential therapies to improve the quality of life for affected individuals. Genetic counseling is also recommended for affected individuals and their families to understand the risks and inheritance patterns associated with the condition.
