
๐Overview
This condition primarily affects the skeletal muscles and the heart, often presenting with early joint contractures that limit range of motion. It typically involves progressive muscle wasting that follows a specific pattern, frequently impacting the upper arms and lower legs.
The disorder is associated with genetic mutations that affect proteins in the nuclear envelope of cells. These alterations can impact muscle fiber integrity and may interfere with the heart's electrical conduction system, which often requires specialized clinical monitoring.
๐ก๏ธ Educational information only
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