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Long‐term follow‐upstudy on patientswith Miyoshiphenotype of distalmuscular dystrophy W.H.J.P. LinssenWillem G. de VoogtMartin Krahn2013 год

Long‐term follow‐up study on patients with Miyoshi phenotype of distal muscular dystrophy
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Аннотация: Background and purpose To describe the long‐term follow‐up of a cohort of 22 patients with the Miyoshi phenotype of distal muscular dystrophy ( MMD ). Methods A long‐term clinical follow‐up study was conducted. Patients were genotyped for dysferlin ( MMD 1) or anoctamin 5 ( MMD 3) mutations. Patients also underwent cardiological evaluation. Results There were 10 patients with MMD 1, eight patients with MMD 3 and four patients with linkage to chromosome 10 ( MMD 2). All patients deteriorated over 5.7 (range: 4.2–6.6) years of follow‐up. Weakness increased significantly ( P < 0.035) in all but the neck extensor, serratus anterior, and wrist flexor and extensor muscles. The decrease of strength was most pronounced in the iliopsoas (15%), toe extensors (15%), anterior tibial and peroneal muscles (10%). Patients with MMD 1 showed early onset of the disease (mean 22 years) with typically symmetrical distribution of weakness starting in the calf muscles. Patients with MMD 1 had a worse clinical course compared with patients with MMD 3. Ninety percent of the former had to make use of a wheelchair within 15 years after onset of the disease, whereas patients with MMD 3, who have a significantly later onset (mean 35 years) of asymmetrical calf muscle weakness and atrophy, remained ambulant during the first 15 years of their disease. None of the patients with MMD 2 became fully confined to the wheelchair. None of the 22 MMD phenotype patients had heart disease. Conclusions Patients with MMD 1 have a worse clinical course compared with patients with MMD 3. There are no cardiological abnormalities in all MMD categories.
Год издания: 2013
Авторы: W.H.J.P. Linssen, Willem G. de Voogt, Martin Krahn, Rafaëlle Bernard, Nicolas Lévy, John H. J. Wokke, H.B. Ginjaar, Marjolein Visser
Издательство: Wiley
Источник: European Journal of Neurology
Ключевые слова: Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, RNA Research and Splicing
Другие ссылки: European Journal of Neurology (HTML)
PubMed (HTML)