DUCHENNE MUSCULAR DYSTROPHY – GENETICS

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Dystrophinopathies are caused by DMD mutations and include Duchenne/Becker dystrophies. Men are typically affected, but subtle clinical signs have been increasingly reported in female carriers of DMD mutations (fcDMD) as well. Cognitive and cerebral abnormalities are major findings in affected men, but have not yet been assessed in fcDMD. Objectives: To investigate cognitive and neuroanatomical abnormalities in fcDMD. Fourteen fcDMD were submitted to neurological and neuropsychological examination, employing either the Addenbrooke’s Cognitive Examination – Revised (ACE-R) test or the Montreal Cognitive Assessment (MoCA).

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