DISTROFIA MUSCULAR DE EMERY DREIFUSS PDF

DISTROFIA MUSCULAR DE EMERY DREIFUSS PDF

Autosomal dominant Emery-Dreifuss muscular dystrophy Summary. This disease is described under Emery-Dreifuss muscular dystrophy. Emery-Dreifuss muscular dystrophy, characterized by the clinical triad of joint contractures, muscle weakness and cardiac involvement. A distrofia muscular de Emery Dreifus tipo 1 (DMED1) é uma doença familiar, com transmissão recessiva ligada ao X, resultante da mutação de uma proteína.

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Physical examination revealed moderate contractures of both elbows, with no muscle atrophy or weakness or sensory or motor deficit.

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In affected members of the 3 families diagnosed with LGMD1B linked to markers on chromosome 1qq21 by van der Kooi et al. Cranial muscles were normal. Ital J Neurol Sci ;7: It is distributed to all members of the Portuguese Societies musculaar Cardiology, Internal Medicine, Pneumology and Cardiothoracic Surgery, as well as to leading non-Portuguese cardiologists musuclar to virtually all cardiology societies worldwide.

Family history showed that her mother had walking difficulties from age 40 years and died of a heart attack at age This protein is found in the inner nuclear membrane of virtually all cells, but is expressed more in the nuclei of skeletal and cardiac muscle cells.

However, findings are similar to those cases of this disease described in literature 1,6 but, in some of them the alterations are more remarkable.

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Disease onset ranged from 17 to 42 years, and cardiomyopathy appeared late in the disease, always after skeletal muscle involvement. Most of the LMNA mutations that cause this condition result in dreifuws production of an altered version of these proteins. Genetic analysis showed that individuals in the group with childhood onset tended to have missense mutations, whereas those in the group with adult onset tended to have truncating mutations.

After genetic study identified the same mutation as found in his brother and established a diagnosis of EDMD1, it was decided to implant a permanent pacemaker VVIR. This gene provides instructions for making two very similar proteins, lamin A and lamin C. The electromyogram may be normal or show various alterations increased insertional activity, fibrillation, positive waveswhich help in confirming the myopathic nature of the disease and differential diagnosis.

They are the same type as the ones seen in arrhythmogenic ventricular dysplasia of the right ventricle From Wikipedia, the free encyclopedia. Cardiologic abnormalities were found in A young male, Caucasian, aged 16, the second child of non-consanguineous parents, was referred for cardiology consultation due to electrocardiographic alterations.

Orphanet: Distrofia muscular de Emery Dreifuss, autossómica dominante EDMD2

At age 26 he developed tachycardia episodes. Alport syndrome Dent’s disease X-linked nephrogenic diabetes insipidus. Emery-Dreifuss muscular dystrophy 4, autosomal dominant. There were mild contractures of the elbow and ankles.

Ann Intern Med,pp.

Emery-Dreifuss Muscular Dystrophy

In addition, 12 patients had df electrocardiographic findings, most of whom also had normal echocardiographic findings; these patients ranged in age drefuss 4 to 25 years. For all other comments, please send your remarks via contact us. Emery-Dreifuss muscular dystrophy EDMD is a rare disease characterized by early contractures especially in the neck, elbows and anklesslowly progressing muscle weakness more prominent in humeroperoneal region, onset between 5 and 15 years of age, and peculiar cardiac problems followed by death in some cases and need for a permanent cardiac pacemaker in others Most EMD mutations prevent the production of any functional emerin.

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She drefiuss had features of lipodystrophy FPLD2;with increased subcutaneous adipose tissue in the back and facial region and extremely thin extremities. The patient’s father was seen at age 35 because of limitation of neck flexion, noted weakness of leg muscles at age 38, became aware of cardiac abnormalities at age 39, began use of a cane at age 52, was chair-bound at age 60, and cistrofia at age 62 of progressive heart failure.

J Med Genet, 26pp. Four instances of male-to-male transmission were observed in the family.

CiteScore measures average citations received per document published. Clinical Synopsis Toggle Dropdown. C ] – Onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement [UMLS: Myotonic dystrophy and facioscapulohumeral muscular dystrophy should also be mentioned here, as they may sometimes feature atrial arrhythmias as the ones in EDMD 4.