Adolescents with muscular dystrophies.
The muscular dystrophies (MDs) are inherited or de novo gene mutation disorders of sarcolemma-associated proteins or nuclear membrane-associated proteins. They are manifested by progressive striated muscle weakness and wasting. Cardiac and central nervous system abnormalities may be present. MD phenotypes vary in terms of defective gene, mode of inheritance, age of onset, distribution of muscle involvement, and severity. Clinical diagnosis is confirmed by direct or indirect mutation analysis and gene product defect detection in frozen muscle samples by immunohistochemistry and Western blot. The majority of the adolescents with MD are already aware of the nature and course of their condition, which adds a significant psychosocial pathology to their physical disability. Management includes: (1). prevention of new cases by preconception counseling, prenatal testing, and neonatal screening; (2). prevention and treatment of skeletal deformities, cardiac and respiratory insufficiencies, and psychological and psychiatric disturbances; and (3). education, counseling, and support to patients, parents, siblings, caretakers, and teachers. Management is better achieved with a multidisciplinary approach. Although there is no cure, oral steroids may preserve transitorily acceptable muscle function. Despite the initial failure with myoblast transfer therapy, advances in molecular genetic and stem cell implants are promising.
Papazian
Oscar
O
Department of Neurology, Miami Children's Hospital, Miami, Florida 33155, USA.
Alfonso
Israel
I
D000293:Adolescent; D017668:Age of Onset; D002648:Child; D006801:Humans; D009136:Muscular Dystrophies / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy