SNUPN-related muscular dystrophy with or without multi-system involvement

SNUPN-related muscular dystrophy with or without multi-system involvement is a form of congenital muscular dystrophy caused by changes in the SNUPN gene. This condition primarily affects the muscles, leading to a variable degree of muscle weakness and abnormal muscle signs identified on examinations such as elevated serum creatinine kinase levels. In some people with this condition, other body systems including the eyes, bones, lungs, and the brain may also be involved. The pattern and severity of these features can vary greatly between individuals.

Common signs include muscle weakness, elevated serum creatinine kinase, and the presence of myopathic features in skeletal muscle. Some people may also experience problems affecting their eyes, bones, breathing, and brain.

This condition is caused by pathogenic variations in the SNUPN gene. It is a congenital muscular dystrophy, indicating that it is present at birth. The genetic changes lead to the varying symptoms observed in muscle function and potentially other body systems.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.