SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

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Spinal and bulbar muscular atrophy (SBMA), also called Kennedy disease, is a slowly progressive disease with weakness and atrophy of the bulbar and extremity muscles. Muscle quality and involvement pattern have not been investigated systemically in this patient group. In this study, we investigated phenotypic features, with emphasis on muscle, in 40 patients with SBMA using MRI, stationary dynamometry, questionnaires and functional tests. Patients with a genetically confirmed diagnosis of SBMA were included.

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