P133 Influence of X-chromosome activation pattern in muscles on symptoms and progression of cardiac and muscle symptoms signs in women with pathogenic dystrophin gene variants: a 6-year follow-up of 53 patients

Duchenne and Becker muscular dystrophies are caused by mutations of the dystrophin gene. The gene mutation causes the absence or very severe reduction of dystrophin protein in the muscle and heart cells. Female carriers who have both muscular and cardiac involvement are classified as “manifesting carriers”. However, the incidence of skeletal muscle involvement among female carriers of DMD was 2.5%–19%, and of dilated cardiomyopathy (DCM) 7.3%–16.7% for DMD carriers and 0%–13.3% for BMD carriers, but in one of the latest cross-sectional studies with some of the most sen sitive outcome measures to date, 81 % showed muscle affection and 62% cardiac dysfunction.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research