Abstract
In muscular dystrophies, there are pathological changes in skeletal muscles and, in many cases, also in the myocardium. While cardiomyopathy may manifest itself at the same time as myopathic syndrome, it may develop even earlier.
Becker muscular dystrophy (BMD) is most often associated with dilated cardiomyopathy. We present the case report of a 40-year-old man with fatigue and muscle weakness beginning in his school age.
Progression of myopathic syndrome and the presence of dilated cardiomyopathy (with the latter diagnosed by a cardiologist) raised suspicion of BMD. The diagnostic work-up was not easy.
DNA analysis revealed neither deletion nor duplication in the DMD (Duchenne muscular dystrophy) gene or genes of other muscular dystrophies. Muscle biopsy combined with immunohistochemical analysis of sarcolemmal proteins suggested BMD.
Deletion of exon 4 in the DMD gene was eventually found on the mRNA level. Subsequent analysis of DNA (isolated from peripheral blood) identified an inverse mutation (splice junction mutation of exon 4).
The aim of our article is to draw attention to the presence and significance of cardiomyopathy in BMD. The diagnostic potential of analysis of muscular mRNA obtained by muscle biopsy is also mentioned.