811 Progressive Muscular Dystrophy: Clinical and Genetical Study

Abstract

Background and aims: Progressive muscular dystrophies represent a group of genetic diseases with insidious onset in childhood; they are characterized by muscle fatigue associated with pseudohypertrophy of the muscles, high level of creatinkinase; electrophysiological, histological and molecular biology studies distinguish the primary disorder of the muscles.

Methods: Prospective study that included 16 patients (1-5 years old) in a period of 2 years (2006- 2008). Patients were evaluated clinically, functionally, paraclinical (muscle enzyme), neurophysiology. In all patients muscle biopsy was performed and in 8 cases genetic tests.

Results: In this trial 12 children (75%) had pseudohypertrophy of calf muscles, 8 children (50%) had signs of muscular disease (the weakness of proximal muscles, a positive Gowers's sign), 5 children (31.25%) had increased levels of transaminases, creatinkinase and lactic dehydrogenases. Genetic studies were performed in 8 of the patients, 6 presenting deletions and point mutations 2.

Conclusions: Progressive muscular dystrophy is a relative frequent disorder in children, which can be recognized early; if the high levels of transaminases are find, without other sings of hepatic disease, is necessary to determine the creatinkinase level. Genetic studies are required to specify the type of mutation in the initiation of therapies to slow evolution.

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