Facioscapulohumeral Muscular Dystrophy

📋Overview

Facioscapulohumeral muscular dystrophy is one of the most common forms of muscular dystrophy diagnosed in adults. It results from specific genetic changes on chromosome 4, particularly involving the D4Z4 region, which cause abnormal protein production and lead to muscle cell dysfunction.

This condition is named for the muscle groups it most frequently impacts: the facial muscles, the muscles surrounding the shoulder blades, and those in the upper arms. Although weakness often begins in these specific areas, the clinical presentation and rate of progression may vary significantly between individuals.