Monogenic hereditary diseases

Progressing muscular dystrophy. The symptoms include delay of motor development, muscular weakness, reduced muscle tone and size. A typical example of this disorder is Duchenne Becker muscular dystrophy (OMIM – 310200): a hereditary X-linked recessive disease, with the frequency rate 1 case per 3600-6000 born alive boys, induced by dystrophin mutation and characterized by the damage of proximal muscles, cardiological, orthopedic and respiratory complications. Duchenne dystrophy is the most severe type that manifests in the age from 2 to 5 and characterized by the progressing malignant course: development of flaccid paresis, paralysis and muscle contractures. Becker dystrophy is a benign type of the disease that manifests later at age 10 to 20 and slow progress of the symptoms of muscle weakness, though preserving the ability to walk independently for 15-20 years from the onset. Molecular-genetic characteristic: Classification of neuromuscular diseases of the Washington University [http://neuromuscular.wustl.edu]) based on primary molecular defect.

 Classification of muscular dystrophies