This muscle weakness begins in the legs and pelvis and slowly affects the. Owing to the lack of the dystrophin protein, muscle fibres break down and are replaced by fibrous and or fatty tissue causing the muscle to weaken gradually. Alteraciones cardiologicas en ninos con enfermedad. Prevalencia hallazgos clave distrofia muscular muscular.
Becker muscular dystrophy bmd is named after the german doctor peter emil becker, who first described this variant of dmd in the 1950s. Duchenne muscular dystrophy dmd is an xlinked inherited neuromuscular disorder due to mutations in the dystrophin gene. Dmd is the most common he reditary muscular dystrophy of infancy. Oct 07, 2015 duchenne muscular dystrophy dmd is an xlinked inherited neuromuscular disorder due to mutations in the dystrophin gene. Abuchamneto 2, mariza polati 2, gerson chadi 1,umbertina c. This muscle weakness begins in the legs and pelvis and slowly affects the whole body. In addition to age of death or actual age during the investigation, data concerning clinical course and medical interventions were collected. Duchenne muscular dystophy essayspseudohypertropic muscular dystrophy, or duchenne muscular dystrophy is an inherited disease whose symptoms include quickly progressive muscle weakness. Duchenne muscular dystrophy is a serious condition that causes progressive muscle weakness. This particular type of muscular dystrophy is referred to as duchenne muscular dystrophy, which is a genetically inherited disorder that is the.
Information about 94 patients born between 1970 and 1980 was obtained by telephone interviews and questionnaires. A clinical guide to symptoms and diagnosis offers a concise, invaluable resource for understanding how a group of neurologic symptoms or signs collectively characterize a disease or disorder. Distrofia muscular wikipedia, a enciclopedia livre. Desempenho motor e funcional na distrofia muscularde duchenne. Cardiopatias congenitas mas frecuentes en ninos con sindrome. This has become a reality for many parents as they find out that their child has a form of muscular dystrophy. Intended as a quick reference guide to the better known and some less familiar syndromes of neurological interest and developed by a renowned pediatric neurologist with more than.
Essay on duchenne muscular dystrophy 18 words cram. Ruf zu einem patienten mit duchennemuskeldystrophie. It is characterized by progressive muscle deterioration which results in the patient becoming wheelchairdependent until death from cardiorespiratory complications. Seuls les garcons sont atteints et les femmes sont transmettrices. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. Duchenne muscular dystrophy dmd in different stages of the disease, by means of the life satisfaction index for adolescents lsia. Duchenne muscular dystrophy is an xlink recessive disorder that affects 1 per 3. In addition to age of death or actual age during the investigation, data concerning clinical course and medical in. Please use one of the following formats to cite this article in your essay, paper or report. Duchenne muscular dystrophy dmd was first described by the french neurologist guillaume benjamin amand duchenne in the 1860s. Presentacion del caso clinico conceptos preliminares caracteristicas del gen incidencia.
Sindrome vestibular sindrome vestibular periferico por lesion a nivel del laberinto y nervio vestibular suele ser completo y congruente principal. Jun 25, 2019 please use one of the following formats to cite this article in your essay, paper or report. Clinical features and diagnosis of duchenne and becker muscular distrophy. In dmd, boys begin to show signs of muscle weakness as early as age 3. Duchenne muscular dystrophy dmd is a severe neuromuscular disease of genetic origin that affects male children.