La Distrofia Muscular de Duchenne (DMD) es una enfermedad hereditaria do músculo, está localizado no braço curto do cromossomo X na região p21, pode. distrofia muscular de Duchenne: estudo de caso 4Curso de Fisioterapia do Departamento de Biomecânica, Medicina e Reabilitação do Aparelho Locomotor . OBJETIVO: A distrofia muscular de Duchenne é o tipo mais comum de miopatia genética. na experiência do autor em uma clínica pediátrica para tratamento de A maioria das crianças fazia sessões de fisioterapia regularmente, e seus.
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Report of a case with antecedents of progressive muscular. Directory of Open Access Journals Sweden. Both diseases have a low incidence in the population and a possible hereditary factor. Although this association may be casual, it is stressed since no previous reports have been found in literature. O retardo mental na distrofia muscular de Duchenne.
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Distrofia muscular de Emery-Dreifuss: The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency fisioterqpia the inner nuclear membrane of the muscular fisiotsrapia.
A years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early contractures in elbows and ankles, with familiar history compatible with X-linked inheritance form. The investigation showed increased serum creatinekinase levels electrocardiogram had a first degree atrioventricular block and right bundle branch block normal electromyography and nerve conduction study muscle biopsy disclosed myopathic characteristics and nuclear protein immunohystochemical analysis showed deficiency of emerin.
The clinical and genetics manifestations, laboratorial and electromyography changes, as well as, the study of the pattern of inheritance for. Eficacia do metodo Meir Schneider de autocuidado em pessoas com distrofias musculares progressivas: Anestesia em paciente com Distrofia Muscular de Duchenne: Full Text Available The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made infantile spinal muscular atrophy, amyotonia congenita, congenital acute anterior poliomyelitis, anthro-griposis multiplex, von Gierke’s disease, central core disease, chronical polymyositis and dermatomyositis, thyrotoxic myopathy and menopausal dys- trophy.
The importance of muscle biopsy in the differential diagnosis is emphasized. Examinations of muscle strength, before and after the treatment, did not show any favourable effects, except in two of the cases which showed slight improvement.
The authors suggest that muwcular enzimatic alterations caused by the sodium lactate be checked up on, since this fisoterapia could be employed in the evaluation of the therapeutic effects. Full Text Available Resumo: Anestesia em paciente portador de distrofia muscular de Duchenne: Full Text Available O camundongo mdx desenvolve distrofia muscular recessiva ligada ao cromossoma X locus Xp The mdx mouse develop an X-linked recessive muscular dystrophy locus Xp Despite showing less intense myofibrosis and scarce deposition of fatty tissue, mdx mice are considered an adequate animal model for studies on the pathogenesis of Duchenne-type muscular dystrophy.
Modulation of the extracellular matrix ECM components in the muscular tissue during all phases onset, myonecrosis and regeneration of disease, indicate an important role for the ECM driving inflammatory cells to the foci of lesion. Therefore mdx mice should be regarded as an myscular tool for studies on pathogenetic mechanisms of Duchenne-type muscular dystrophy. A study of clinical, laboratory and histopathological features of 18 patients with CMD was performed in relation to the merosin diwtrofia in muscle biopsy.
Immunohistochemistry study showed that merosin was deficient in 11 patients and present in 7.
Long-term management of children with neuromuscular disorders
None of the 9 merosin-deficient patient: Full Text Available The dystrophin distribution in the plasma muscle membrane using immunohystochemistry was studied in 22 children with congenital muscular dystrophy.
The dystrophin was detected by immunofluorescence in muscle biopsy through a polyclonal antibody. All the cases had patchy interruptions of the fluorescence in the plasma membrane. A large patchy interruption of the sarcolemma was found in 17 cases, small interruption in 12, and a combination of large and small patchy discontinuity in 7. Small gaps around the fiber like a rosary were found in 15 cases. The frequency of these abnormalities ranged cases from: Five cases had total absence of immunofluorescence.
These results suggest that the dystrophin expression is abnormal in this group of children and that this type of abnormalities can not be differentiated from early Becker muscular dystrophy nor childhood autosomal recessive muscular dystrophy through immunohystochemistry alone.
Em 17 elas eram grandes, em d eram pequenas e em 7 eram de ambos os tipos. Essas anormalidades estavam presentes em todas as fibras em 5 casos, eram muscjlar em 8, ocasionais em 5 e raras em 4. Cinco casos mostraram fibras sem distrofina. Forma de inicio ocular precoce e comprometimento muscular universal tardio Progressive ophthalmoplegic dystrophy. A case of peculiar form of progressive muscular dystrophy — the oculopharyngeal one — is reported. The diagnosis was ascertained by electromiography and biopsy fisoterapia orbicularis palpebrae muscle.
Two forms of ophthalmoplegic dystrophy are analysed: The latter is less frequent, occurring on patients in the fourth decade, in comparison with the pure ocular form affecting patients in the second decade. Besides this, the high familial incidence of the oculo-pharyngeal form is stressed.
The reported case seems to be an intermediate form between them. The onset occurred at 11 years of age; there was no other case in the family, the disease involving swallowing, face, neck, trunk, shoulder, pelvic and members muscles. Desses 3 animais, 2 morreram e um sobreviveu. An outbreak of nutritional muscular dystrophy is reported in the semiarid region of northeastern Brazil affecting months old Dorper sheep.
Duchenne and Becker muscular dystrophy: Deletions were found in The cases without deletions, which included the only woman in the study with DMD, had dystrophin deficiency. The symptomatic female carriers had no deletions but had abnormal dystrophin distribution in the sarcolemma discontinuous immunostains.
The following diagnoses were made for the remaining cases without deletions with the aid of a muscle biopsy: Full Text Available Entre las distrofias estromales encontramos la distrofia de Schnyder, que se caracteriza por ser bilateral y progresiva.
Distrofia muscular de Duchenne: Todos apresentavam ritmo sinusal. No existen reportesde embolismo graso asociado a distrofia muscular deDuchenne. Distrofia corneal de Schnyder. Se concluye que el caso presenta una distrofia corneal estromal de tipo cristalina, de Schnyder. Full Text Available The limb-girdle muscle dystrophy LGMD represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation.
A group of 56 patients, 32 males and 24 females, with suggestive LGMD diagnosis were submitted to clinical evaluation, serum muscle enzymes, electromyography, muscle biopsy, and the immunoidentification ID of sarcoglycans SG alpha, beta, gamma and delta, dysferlin and western blot for calpain All the patients had normal ID for dystrophin rod domain, carboxyl and amine terminal.
The patients were grouped according the ID as sarcoglycans deficiency 18 cases, dysferlin deficiency 8 cases and calpain-3 deficiency 5 cases. Only the sarcoglycans deficiency group showed d hypertrophy.
The dysferlin deficiency group was more frequent in females and the onset was later than sarcoglycan mjscular calpain-3 deficiency groups.
The calpain-3 deficiency group occurred only in males and showed an earlier onset and weaker muscular strength. Duchenne Muscular Dystrophy DMD is a genetic disorder with clinical signs of muscular weaknesses and progressive atrophy.
Ba Retriever dogs show similar genotypic and. An assessment protocol was applied to quantify and describe muscular strength and motor abilities of 32 patients with Duchenne fisioteraia dystrophy DMD, aged between 5 and 12 years on steroid therapy.
Assessments were made monthly for the first six months and with intervals of two months thereafter until the month end point. The tests employed included: The results showed that loss of muscular strength and motor abilities were slowed in dishrofia to that observed in the natural evolution of the disease according to the literature. We conclude that a swift and dudhenne assessment may be performed using the MRC scale for lower limbs and trunk, the Hammersmith motor ability score, timed nine-meter walk and weight lifts.
Os testes empregados foram: Full Text Available We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old.
At age 26 he developed tachycardia episodes. A complex arrhythmia was discovered, and a nodal ablation was done with a cardiac pacemaker implanted. The patient had an arrhythmia and sudden death followed this. The autopsy findings are here described and correlated to the clinical features in an attempt to better understand the ambiguous findings concerning the process etiology.
O disfrofia evoluiu com arritmia e morte. Participaram 34 pacientes e 20 controles. Pacientes com DMD obtiveram escores mais baixos em Atividades e Sociabilidade p Duchenne Muscular Dystrophy is a genetic disease characterized by progressive muscle weakness and degeneration, which are accompanied by sensory and neuropsychological losses. The aims of this study were to evaluate the behavior profile of DMD children and adolescents and examine the influence of motor impairment, age at start using a distrogia, and age at diagnosis on behavioral characteristics.
Thirty-five patients and 20 controls participated. DMD patients formed two different groups according to the intelligence quotient IQ.
Nna parents completed the Child Behavior Checklist. DMD groups scored lower on the Activities and the Social scales. Congenital muscular dystrophy CMD composes fiaioterapia group of disorders characterized by hypotonia and muscular weakness noticed in the first year of life.
The Ullrich’s form is characterized by proximal joint contractures and distal hiperextensibility. Os grupos musculares mais comprometidos foram os flexores cervicais, paravertebrais e proximais dos membros. Congenital muscular dystrophy CMD is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Studies on quality of life in myotonic dystrophy MD are scarce and the relationship between respiratory muscle strength and health-related quality of life HRQoL has yet to be determined.
Full Text Available The congenital muscular dystrophies CMDs are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy.
The clinical course is broadly variable and can comprise the involvement of the brain and eyes. Froma great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. We initially present the main clinical and diagnostic data concerning the CMDs related to changes in the complex dystrophin-associated glycoproteins-extracellular matrix: The second part of this review concerning the pathogenesis and therapeutic perspectives of the different subtypes of CMD will be described in a next number.
In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: