Neurológia pre prax 1/2026
Carriers of dystrophinopathies – a neglected group of patients
Dytrophinopathies are X-linked genetic dysorders caused by Dystrophine gene mutation. The phenotypes of patients include the well-known forms of Duchenne and Becker muscular dystrophy, DMD-related dilated cardiomyopathy in men, but also less well-known and highly variable forms of dystrophinopathies in female carriers. The disease in women is most often caused by inactivation of chromosome X. It may be manifested as an isolated elevation of muscle enzymes tests, other female patients may suffer from severe muscle weakness, dilated cardiomyopathy or other extramuscular complications. The diagnostic method of choice is a molecular genetic examination of the dystrophin gene. There is no causal therapy available, therapy is limited to symptomatic treatment, prevention of complications and genetic counselling.
Keywords: muscular dystrophies, woman carriers of dystrophinopathy, cardiomyopathy
