Abstract

Muscular dystrophies are a group of hereditary diseases, classified by genetic defects and have different clinical course and expression. Duchenne muscular dystrophy is the most common hereditary neuromuscular disease affecting all races and ethnic groups and Its incidence is 1: 3600 liveborn infant boys. It is due to a lack of dystrophin gene, irıherited as an X-linked recessive trait. The dystrophin gene is on the X chromosome at the Xp21 locus. Infant boys are rarely symptomatic at birth or in early infancy. Mild hypotonia or poor head control due to muscular weakness during infancy may be the first sign. Serum levels of creatinin phosphokinase (CPK) is 15-25 fold of normal levels. Serum levels of other enzymes such as alanine transaminase, aspartic transaminase, lacticdehydrogenase (LDH), phosphoglucomutase, glucosephosphateisomerase are also increased. The diagnosis must be confirmed by electromyography (EMG), muscle biopsy and DNA analyses. Five patients with different clinical symptoms and coincidental elevated transaminase levels are diagnosed as muscular dystrophy with the help of elevated CPK levels, EMG and muscle biopsy findings and genetic analyses. Except for one all the patients had clinical signs which were not discerned by their parents previously. Patients with persistent and unexplained hypertransaminasemia should be evaluated carefully and neurologic muscle disease should be kept in mind in differential diagnosis.