Early-Onset Myopathy with Fatal Cardiomyopathy

Early-Onset Myopathy with Fatal Cardiomyopathy

Early-onset myopathy with fatal cardiomyopathy is a genetic disorder characterised by muscle weakness beginning in childhood, coupled with heart disease leading to early death. This condition involves skeletal muscle degeneration and cardiomyopathy, significantly impacting life expectancy. Diagnoses typically include muscle biopsy and genetic testing, with management focused on symptomatic relief and cardiac care.