Terdapat lebih dari 30 jenis penyakit otot yang termasuk dalam distrofi. Becker muscular dystrophy gejala distrofi otot becker yang mirip dengan distrofi otot duchenne. Histopathological and genetic features of patients with limb. Becker muscular dystrophy is like duchenne, except milder. Clinical features and diagnosis of duchenne and becker muscular distrophy. Muscular dystrophy family foundation genetic and rare. In 1986, mdasupported researchers identified the gene that, when flawed a problem known as a mutation causes dmd.
Pdf kardiomiopati adalah sekumpulan kelainan pada otot jantung dan. The word myotonic is the adjectival form of the word myotonia, defined as an inability to relax muscles at will. It also affects boys but the symptoms start later between ages 11 and 25. In 1987, the protein associated with this gene was identified and named dystrophin. Pdf kardiomiopati pada pasien distrofi otot becker researchgate. Richtlijn facioscapulohumerale dystrofie fshd spierziekten. Muscular dystrophy md is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. Muscular dystrophy md is a group of muscle diseases that results in increasing weakening. Pdf duchenne muscular dystrophy dmd is a severe, lifelimiting and. The findings of different studies are inconclusive. Kondisi ini umumnya bersifat diturunkan dan menyebabkan kerusakan pada otot seiring dengan berjalannya waktu. Subscriber if you already have your login data, please click here. Emerydreifuss muscular dystrophy edmd, also known as humeroperoneal muscular dystrophy, can be caused by a number of inheritance patterns.
The present study showed that mri could be a useful distrrofia for studying the dynamic state of water in both normal and pathological skeletal muscles. Muscular dystrophy md is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. Distrofi muskular duchenne syarif majalah kedokteran. Diagnose en behandeling van duchenne spier dystrofie. In this study, it was aimed to describe the clinical, histopathological and genetic features of 20 patients with gamma sarcoglycanopathy confirmed by muscle biopsies and genetic analysis.
Limb girdle muscular dystrophy, lgmd, muscle weakness name of disease and synonyms limb girdle muscular dystrophy, lgmd, limb girdle dystrophy name of excluded diseases all other diseases presenting with limb girdle weakness, i. In their severe form, historically called severe childhood autosomal recessive muscular dystrophy,86,87 they can be indistinguishable from dmd except for the pattern of inheritance which allows girls to be. Musculardystrophyfor pdf urmc university of rochester. Winging of the scapula shoulder blade in muscular dystrophy is caused by weakness of the muscles which attach the scapula to the chest and help raise the arms. Dmd is caused by various mutations in the dmd gene and result in a loss of the skeletal muscle protein dystrophin, which leads to a degradation of skeletal muscle. Prevalencia hallazgos clave distrofia muscular muscular. Discuss the reason for referral express sympathy for the recent loss of son and brother. A brother and nephew of the mother also had duchenne type muscular dystrophy. Presentation material is for education purposes only. Myotonic dystrophy dm is a form of muscular dystrophy that affects muscles and many other organs in the body.
Muscular dystrophy md is a group of more than 30 inherited diseases. Physical examination founded lordosis, pseudohypertrophy of the calves, weakness of muscles of inferior extremities with. Pdf duchenne muscular distrophy is most common muscular dystrophy form in childhood. Muscular dystrophy national library of medicine pubmed health. Weakness is mainly proximal and the muscular dystrophies alan e h emery seminar the muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. Finally, posterior polymorphous dystrophy was diagnosed. Quality of life and pain in patients with facioscapulohumeral muscular dystrophy. Handbook of genetic counselingduchenne muscular dystrophy1. Diagnosis and management of duchenne muscular dystrophy, part. Summary steinerts disease is a rare hereditary myopathy characterized by generalized muscular weakness, myotony, and multisystemic involvement. Symptoms of muscle weakness and loss typically begin in the arms between 10 and 20 years of age.
We report the case of a 2yearold girl who had signs of duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Limbgirdle muscular dystrophy or lgmd is a genetically and clinically heterogeneous group of rare muscular dystrophies. Myotonic dystrophy dm download our myotonic dystrophy dm fact sheet. Myotonic muscular dystrophy is the most common form in. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for duchenne muscular. Limbgirdle muscular dystrophy with gammasarcoglycan deficiency, gammasarcoglycanopathy, lgmd2c, muscular dystrophy, duchennelike, duchennelike muscular dystrophy, autosomal recessive, type 1, dmda1, adhalin deficiency, secondary, dmda, severe childhood autosomal recessive muscular dystrophy, north african type, maghrebian myopathy, autosomal recessive limbgirdle muscular. Limbgirdle spierdystrofie lgmd spierziekten nederland. Media in category duchenne muscular dystrophy the following 24 files are in this category, out of 24 total. Duchenne muscular dystrophy dmd is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. Distrofia muscular genetic and rare diseases information. Advances in pharmacological approach in dmd my personal opinion. Aug 23, 2018 please use one of the following formats to cite this article in your essay, paper or report. Esta protei slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising.
Surgical operations for winging of the shoulder blade in muscular dystrophy. Obtain written consent to use sonbrothers records for session and for testing. The this weekend 2 full movie free download in dual audio torrent. In part 1 of this threepart update, we present care considerations for diagnosis of dmd and neuromuscular, rehabilitation, endocrine growth.
Signs and symptoms of duchenne muscular dystrophy and becker muscular dystrophy. Heterogeneous group of diseases, which do not fit into the above two major categories. Duchenne muscular dystrophy genetic and rare diseases nih. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Pdf tooth extraction with sedation in a child with duchenne.
Distrofi otot, atau muscular dystrophy, merupakan istilah yang merujuk pada sekelompok penyakit otot. Abuchamneto 2, mariza polati 2, gerson chadi 1,umbertina c. Diseases characterized by muscular weakness in early infancy typically obvious at birth and elevated ck in neonatal period normalizes by 610 wks. Until the 1980s, little was known about the cause of any kind of muscular dystrophy. The diagnosis and management of duchenne muscular dystrophy, part 2. Hechos sobre las miopatias muscular dystrophy association. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Oral health in children and adolescents with myotonic dystrophy. Throughout, the different types of muscular dystrophy are described with a minimum of technical jargon. Questions relating to exercise,physiotherapy, surgery, and the emotional effects of the diseases are answered, and advice given on the problems of schooling and choice of career. Duchenne muscular dystrophy dmd is a severe form of muscular dystrophy, characterized by a rapidly progressive muscle weakness and wasting due to degeneration of skeletal and cardiac muscles. Cognitive and psychological profile of males with becker muscular dystrophy.
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