Titre :
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Utilidad de los estudios de imagen muscular en el diagnóstico de un grupo de miopatías con debilidad axial
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Auteurs :
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Alejaldre Monforte A, Auteur
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Type de document :
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Thèse/Mémoire
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Année de publication :
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2016
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Pages :
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165 p
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Langues:
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Espagnol
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Mots-clés :
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diagnostic
;
gène EMD
;
gène LMNA
;
IRM
;
maladie de Pompe à début précoce
;
maladie de Pompe à début tardif
;
mutation génétique
;
tomographie
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Résumé :
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Hereditary myopathies are diseases with a complex diagnosis. They may present with different phenotypes of muscle weakness. A relatively new phenotype is the axial phenotype. Adult Pompe's disease (PD) is a glycogenosis. Glycogen accumulation in lysosomes causes muscle weakness that usually involves girdles and axial muscles associated with respiratory insufficiency. Myopathies due to mutations in EMD and LMNA genes may present with girdles weakness or with Emery-Dreifuss muscular dystrophy phenotype (EDMD). EDMD patients present a scapular-humeral-peroneal weakness associated with joint contractures at elbows, ankles and spine. In recent years computed tomography (CT) and magnetic resonance imaging (MRI) are being used for the study of some neuromuscular diseases. The hypothesis of this thesis is that muscular imaging could be a good diagnosis biomarker of Adult PD and EMD o LMNA genes related myopathy. A characteristic radiological pattern would allow an effective and early diagnosis. Aims were: 1) to describe the pattern of fatty muscle infiltration in these myopathies. 2) to study muscle infiltration in the paravertebral and abdominal area in 30 patients with PD. 3) to correlate muscle weakness with the degree of muscle infiltration in radiology in PD. 4) To describe clinical and radiological characteristics in 42 patients with mutations in EMD and LMNA genes. 5) to search radiological differences according to genotype (EMD o LMNA). PD study was performed in 30 patients with MRI or CT at the trunk level. We found that asymptomatic patients had fatty muscle infiltration in at least one muscle. There was a specific infiltration pattern in trunk area. Moreover this pattern makes evolves according to the clinical severity. There was a correlation between the degree of muscle infiltration and clinical stage. The study of myopathies due to mutations in EMD and LMNA genes was perfomed in 42 patients with MRI or CT of trunk and lower extremities area. We found EDMD patients showed no clinical differences according genotype. We described an infiltration pattern in these patients that affects paravertebral area, anterior and posterior compartment in the thigh and posterior compartment in the leg. Significative difference was found in the degree and frequency of infiltration in peroneal muscle. Peroneal Infiltration was greater in patients with mutations in EMD gene. We showed paravertebral infiltration in asymptomatic patients. We found an evolutive radiological pattern according to the clinical stage evolution. In conclusion muscular radiology is an effective biomarker for the diagnosis of adult PD and myopathies caused by mutations in the LMNA or EMD genes. In patients who share the same phenotype muscle imaging could be a useful tool to guide genetics studies.
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Type de thèse :
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Thèse de Médecine
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