SNP Shot: Genomic Insights

Myofibrillar myopathy is a type of muscular dystrophy, a group of diseases that weaken muscles and impair their function. It mainly impacts skeletal muscles, responsible for body movement. Occasionally, the heart muscle (cardiac muscle) is also involved.

The symptoms of myofibrillar myopathy differ greatly from person to person, largely depending on the specific gene causing the condition. While most individuals develop muscle weakness (myopathy) around middle age, symptoms can manifest at any age, from infancy to late adulthood. Weakness often starts in the hands and feet (distal muscles), but some experience it first in the muscles closer to the body's core (proximal muscles). Others experience widespread muscle weakness. Facial weakness can lead to problems with swallowing and speaking. Muscle weakness progresses over time.

Additional symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), numbness and weakness in the arms and legs (peripheral neuropathy), and breathing problems (respiratory failure). Skeletal issues like stiff joints (contractures) and a curved spine (scoliosis) can also occur. In rare instances, individuals may develop cataracts (clouding of the eye's lens).

Inheritance:

This condition follows an autosomal dominant inheritance pattern, meaning that only one copy of the mutated gene in each cell is enough to cause the disorder.