MEGF10-related myopathy

MEGF10-related myopathy is a congenital muscle disorder caused by mutations in the MEGF10 gene. This condition is characterized by early-onset muscle weakness and can appear in different forms. In some cases, people with this condition experience severe symptoms including significant muscle weakness, curvature of the spine (scoliosis), and contractures in the joints. Other common features include reduced or absent reflexes (areflexia), breathing difficulties (respiratory distress), and problems with swallowing (dysphagia). A milder form of the condition, sometimes described as minicore myopathy, may also be seen. The information provided comes from established genetic and medical data sources.

Common symptoms seen in people with MEGF10-related myopathy include early muscle weakness, scoliosis (a curved spine), joint contractures (stiff joints), and reduced reflexes. Breathing difficulties and problems with swallowing are also noted, which can impact daily activities.

MEGF10-related myopathy is caused by mutations in the MEGF10 gene. These genetic changes affect the normal function of the gene, leading to the muscle problems seen in the condition. The genetic cause is clearly linked to the mutation in the MEGF10 gene, underscoring the role of genetics in this congenital myopathy.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.