SNP Shot: Genomic Insights

Early-onset myopathy with fatal cardiomyopathy (EOMFC) is a genetic muscle disorder impacting both skeletal muscles (responsible for movement) and the heart muscle. It manifests as muscle weakness, noticeable in early infancy, leading to delays in achieving motor milestones like sitting, standing, and walking. Later in childhood, individuals with EOMFC may develop contractures, causing restricted movement in the neck and back, as well as scoliosis (abnormal spinal curvature), which develops in late childhood.

Dilated cardiomyopathy, a type of heart disease, is another key characteristic of EOMFC. This condition causes the heart muscle to enlarge and weaken, impairing its ability to pump blood effectively. Symptoms can include arrhythmia (irregular heartbeat), shortness of breath, severe fatigue, and swelling in the legs and feet. Heart-related problems in EOMFC typically emerge after the muscle weakness and tend to worsen rapidly, often leading to heart failure and sudden death during adolescence or young adulthood.

Inheritance:

EOMFC follows an autosomal recessive inheritance pattern. This means that an individual must inherit a mutated copy of the responsible gene from *both* parents to develop the condition. The parents, each carrying only one copy of the mutated gene, are typically unaffected carriers and do not exhibit the disease's signs or symptoms.