کشف واریانت جدید در بیمار با آتروفی عضلانی- نخاعی و صرع میوکلونیک پیشرونده

کشف واریانت جدید در بیمار با آتروفی عضلانی- نخاعی و صرع میوکلونیک پیشرونده

کد: G-1008

نویسندگان: Meisam Babaei MD © ℗, Najmeh Ahangari PhD, Fatemeh Arab, PhD

زمان بندی: زمان بندی نشده!

برچسب:

دانلود: دانلود پوستر

خلاصه مقاله:

خلاصه مقاله

Background: Spinal muscular atrophy with progressive myoclonic epilepsy affects the nervous system. Symptoms appear in early childhood and include muscle weakness, difficulty walking, seizures, and cognitive decline. Despite of introducing various therapies to restore acid ceramidase function or reduce ceramide accumulation, as well as gene therapy to correct genetic mutations, there are still unknown underlying molecular mechanisms related to this disorder. We report a novel variant c.118GC in ASAH1 gene. Patient found with clinical manifestations such as progressive muscle weakness and myoclonic convulsions. Clinical features and electrophysiological investigations revealed a motor neuron disease and generalized epileptic discharge. There was a significant temporal interval observed between the initial diagnosis of Spinal Muscular Atrophy (SMA) and the subsequent manifestation of myoclonic seizures. Proband genetically assessed through whole exome sequencing followed by variant confirmation and bioinformatics analysis. According to our finding and previous researches, further diagnostic testing and management are needed to determine the severity and progression of the patient's condition. Keywords: spinal muscular atrophy-progressive myoclonic epilepsy, novel variant

ارسال دیدگاه توسط مدیریت بسته شده است.