Rapid molecular diagnosis of spinal muscular atrophy
نویسنده
چکیده
inherited autosomal neuromuscular disorder which is characterized by progressive muscle weakness and is the leading genetic cause of childhood deaths. The SMA is clinically heterogenous and clinical spectrum ranges from early infant death to normal adult life with only mild weakness. The International SMA Consortium has subdivided the disease into three types according to age at first symptoms and milestones of development. Type I SMA is the severe form of Werdnig-Hoffmann disease with onset at birth or before 6 months and death due to respiratory distress usually within 2 years. Actually, type I SMA patients are never able to sit or walk due to profound muscular weakness. Children with type II SMA (intermediate form) can sit but cannot stand or walk unaided. In type III SMA (KugelbergWelander disease) patients show the first clinical signs after 18 months, evolving to a chronic course1.
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Assessment of Preimplantation Genetic Diagnosis (PGD) for Childhood-onset Spinal Muscular Atrophy (SMA) Using Duplex Fluorescent PCR
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