ASC-1 related myopathy is an early onset neuromuscular condition which usually manifests in the first years of life with muscular weakness and hypotonia and subsequently associates scoliosis, cutaneous abnormalities, respiratory failure and possible cardiac involvement. The severity of the disease is highly variable and ranges from patients who deceased within the first years of life due to respiratory failure to patients with milder forms who are still ambulant in adulthood. Regular respiratory and cardiac evaluations are strongly recommended to guide symptomatic treatment.
TRIP4