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Communication strategies used in pediatric urology by specialist professionals.

Authors: Salviano CF, Martins G
Journal: Revista brasileira de enfermagem
mental health psychology open access

Abstract

Congenital muscular dystrophies (CMDs) are a group of inherited disorders that predominantly affect skeletal muscle. They are characterized by early‐onset hypotonia, mild to severe muscular weakness (at birth or in infancy), delayed or arrested fine and gross motor milestones, diminished deep tendon reflexes, and multiple joint contractures., , , , Creatine kinase (CK) is usually but not invariably elevated. Muscle biopsy typically shows a dystrophic myopathic pattern with considerable variation in fiber size, endomysial and paramysial proliferation, degeneration/regeneration, increased adipose tissue, and fibrosis., , , , The histological appearance may vary due to the disorder's specific stages, the disease severity, or both. Muscle biopsy early in the course of the disease may reveal a myopathic pattern without overt dystrophic features, suggesting congenital myopathy, metabolic myopathy, or a neurogenic disorder (Figure )., The occurrence is still poorly understood, although a few publications have reported incidence or prevalence in relatively small areas, with the overall prevalence of CMDs estimated at 0.5–2.5 per 100 000., , , , , , , ,