SNP Shot: Genomic Insights

CAV3-related distal myopathy is a type of distal myopathy, a category of muscle diseases primarily affecting the distal muscles – those furthest from the body's core, like in the hands and feet. Individuals with this condition experience muscle atrophy and weakness predominantly in the small muscles of their hands and feet, with symptoms typically appearing in adulthood. A physical impact, like a bump, can trigger rapid, repetitive contractions (percussion-induced rapid contraction) in the affected muscles, particularly in the forearms. These contractions can last up to 30 seconds and may be painful. Calf muscle hypertrophy is another possible feature. Importantly, the proximal muscles, such as those in the thighs and upper arms, remain unaffected.

Inheritance:

CAV3-related distal myopathy follows an autosomal dominant inheritance pattern. This means only one copy of the mutated gene is needed to cause the condition. Usually, an individual with this condition has a parent who also has CAV3-related distal myopathy or another caveolinopathy. In rare instances, the condition arises from a new gene mutation, occurring in individuals without any family history of caveolinopathies.