Limb-Girdle Muscular Dystrophy in Brazilian children: Clinical, histological and molecular characterization.

Abstract

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular disorders, involving autosomal recessive and dominant forms, that clinically are characterized by progressive muscular weakness of proximal predominance, generally starting in the pelvic girdle and, later, in the shoulder girdle, frequently associated with other clinical signs such as calf hypertrophy, joint retractions and skeletal deformities such as winging scapula and scoliosis. The distal muscles may be affected, but usually only late in the progression of the disease. Involvement of respiratory muscles and cardiac muscles is described in many forms of the disease. Different degrees of increase in the serum level of creatine kinase (CK) are observed and, sporadically, there is involvement of the central nervous system (CNS) and gastrointestinal tract . Autosomal recessive forms are far more common than autosomal dominant, particularly in children. Significant overlap of clinical phenotypes, with genetic and clinical heterogeneity, constitutes the rule for this group of diseases. Muscle biopsies are useful for histopathologic and immunohistochemical studies and the confirmatory toll is the molecular test . This retrospective study had the objective to investigate the frequency of different subtypes of limb-girdle muscular dystrophy in children from a population from a large public teaching hospital serving the country, describing the clinical and histological aspects of the different forms.