منابع مشابه
O-27: Preimplantation Genetic Diagnosis in Prevention of Genetic Diseases -Diagnostic of Spinal Muscular Atrophy (SMA)
Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...
متن کاملSpinal Muscular Atrophy: A Short Review Article
Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...
متن کاملMolecular diagnosis of spinal muscular atrophy.
The frequency of deletions within the survival motor neurone (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes in patients with spinal muscular atrophy (SMA), and the impact of this on the diagnosis and prenatal diagnosis of SMA, were investigated by molecular analysis of stored DNA and retrospective review of case notes. In type I SMA, 16 of 17 cases were homozygously deleted for ex...
متن کاملPreimplantation genetic diagnosis of spinal muscular atrophy.
After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly homologous SMN copy gene complicates the detection of exon 7 deletions. This paper describes the adjustme...
متن کاملRapid molecular diagnosis of spinal muscular atrophy
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 ...
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ژورنال
عنوان ژورنال: Chinese Medical Journal
سال: 2018
ISSN: 0366-6999
DOI: 10.4103/0366-6999.247198