Publication details
Duchennova svalová dystrofie - patogeneze, klinický obraz, diagnostika, aktuální možnosti terapie
| Title in English | Duchenne muscular dystrophy - pathogenesis, clinical picture, diagnosis, current treatment options |
|---|---|
| Authors | |
| Year of publication | 2016 |
| Type | Article in Periodical |
| Magazine / Source | Neurológia |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | Duchenne / Becker muscular dystrophy; the dystrophin; creatine kinase; ataiuren (Translarna) |
| Description | Duchenne/Becker muscular dystrophy is one of the most frequent muscular dystrophies. It is caused by the absence of protein dystrophin due to a mutation in the dystrophin gene. Symptoms of DMD include delayed motor milestones, difficult running or climbing stairs. Boys with DMD use the Gower's maneuver to arise from floor. Cardiomyopathy and respiratory failure most often occur in the third decade. Diagnostical process is based on clinical picture, blood tests re-sults (esp. elevated CK) and confirmation on molecular genetic base. Treatment aims to control symptoms to improve quality of life. From 2015 drug called Translarna is used to treat DMD patients with nonsense mutation. |