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Duchenne muscular dystrophy is the hereditary progressive neuromuscular disease associated with mutations in the DMD gene encoding dystrophin protein and is characterized by striated muscles and cardiomyocytes impairment. It is X-linked recessive disorder and more prevalent in males. Females are carriers of the pathological mutation. It leads to impediment to diagnosis of this disease in women. Mild and severe clinical manifestations can also appear in women and they are attributable to chromosomal aberrations on the short arm of X-chromosome (Xp21.2) and skewed X-chromosome inactivation. The article presents a case of Duchenne muscular dystrophy in a girl with a nonsense mutation in the DMD gene. Primary diagnosis was suspected by gastroenterologist due to elevated levels of creatine phosphokinase and transaminase. The importance of diagnosis in preclinical stage of the disease is highlighted, moreover it became significantly relevant with appeared therapeutic options for patients with this mutation.