Soto-Vargas J

Language: Spanish
References: 11
Page: 33-38
PDF size: 552.18 Kb.

ABSTRACT

8-years old infant masculine presents with progressive muscular weakness, started at the age of 3 years with frequent falls. Weakness continued limiting his movements and finally he wasn't able to seat by himself. He is referred to Hospital Civil de Guadalajara Fray Antonio Alcalde for evaluation. Here is found an important elevation of muscular enzymes, electromyography suggests muscular damage, biopsy with dystrophic pattern and a PCR study for DMD gene positive for deletion of exon 50. Duchenne muscular dystrophy is diagnosed. Any progressive weakness that has an onset in the toddler should alert the physician to suspect Duchenne's muscular dystrophy. Duchenne s muscular dystrophy is a X-linked, severe and progressive disease, wich requires a multidisciplinary management, being the most frequent muscular dystrophy.

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