Description
Duchenne and Becker muscular dystrophies belong to dystrophinopathies and represent two forms of the same disease, differing in the severity of progressive muscle weakness. In 2/3 of cases, the aberration is hereditary, and in 1/3, it is spontaneous. It is inherited in an X-linked manner. The disease manifests only in sons who have inherited the pathogenic allele. The pathogenesis is based on aberrations in the DMD gene, which codes for the dystrophin protein. Duchenne muscular dystrophy (DMD) is the most severe form with onset at the age of 2-5 years, a relentlessly progressive course, and disability. Becker muscular dystrophy (BMD) is a relatively benign form of the disease with late onset at 10-20 years and slower progression of muscle weakness symptoms.
The most common aberrations in this gene are deletions of one or several exons (50-65%). Less often, the cause of the disease is duplications (5-15%) or point aberrations (up to 25%), which lead to a reading frame shift or are nonsense mutations.
The NGS method, unlike MLPA, allows analyzing the full sequence of the DMD gene for the presence of point aberrations (up to 25%), which lead to a reading frame shift or are nonsense variants. The study is recommended to be prescribed only in conjunction with testing for extended deletions and duplications of all exons of the DMD gene, as this type of genetic change is not detected by the NGS method.
Period of execution
Within 31 days. The specified time does not include the day of biomaterial collection
Biomaterial type