Background : Muscular dystrophies (MD) represent a large group of genetic disorders that are manifested by progressive increase of muscle weakness. Duchenne muscular dystrophy (DMD) is an X-linked disorder and limb-girdle muscular dystrophies (LGMDs) include over thirty subtypes, that are classified in autosomal dominant (1A-1H) and recessive (2A-2W). Our aims was to highlight the clinical and genetic aspects in MD by reporting two clinical cases with the aim of improving the early diagnosis. Case report. The study was performed on the basis of the literature review and presentation of two clinical cases: a 6-year-old boy with DMD and another 17 years old boy with LGMD. Patient G.V. was diagnosed with DMD at the age of 3 years. Electroneuromyography (ENMG) and genetic test (deletion of exons 45-52 in the dystrophin gene) confirmed the diagnosis. He has the following clinical signs: calf pseudohypertrophy, waddling gait, lordosis, elevated serum creatine kinase (CK) - 14 740 U/l, MB fraction – 833 U/l, lactate dehydrogenase (LDH) – 1934 U/l. Patient M.A. was diagnosed with LGMD at the age of 7 years through ENMG. He presents severe motor deficit, waddling gait, hypoplasia of the thigh muscles, permanent asthenia, total CK - 486 U/l, MB fraction - 36 U/l, LDH - 358 U/l. He has first-degree disability and cardiomyopathy. Conclusions. The first signs of MD (DMD and LGMD) occur at early stages, but often are not recognized. Genetic counseling and prenatal diagnosis will significantly reduce morbidity and mortality, will contribute to the improving of the quality of life.