O-27: Preimplantation Genetic Diagnosis in Prevention of Genetic Diseases -Diagnostic of Spinal Muscular Atrophy (SMA)

Assessment of Preimplantation Genetic Diagnosis (PGD) for Childhood-onset Spinal Muscular Atrophy (SMA) Using Duplex Fluorescent PCR

Preimplantation 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...

Preimplantation Genetic Diagnosis 27

Spinal muscular atrophy (SMA).

? Multiple Choice Questions Section The Neuroscience Journal introduces this new section on multiple choice questions as part of its commitment to continuous education and learning in Neurosciences. Experts in various neuroscience specialties are invited to participate with their knowledge and expertise in this section. Neurology, neurosurgery, and other board residents are encouraged to read t...

Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a severe neurodegenerative autosomal recessive disorder, second only in frequency to cystic fibrosis. In its most severe form, SMA type I (Werdnig-Hoffman), death invariably ensues before age 2 years from respiratory failure or infection. Around 98% of clinical cases of SMA are caused by the homozygous absence of a region of exons 7 and 8 of the telomeric copy o...

[Preimplantation genetic diagnosis of monogenic diseases].

Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis allowing the detection of genetic diseases on IVF embryos before their transfer into the uterus and before the pregnancy. The aim of this procedure is to obtain unaffected or carrier embryos in order to avoid the burden of termination of pregnancy after prenatal diagnosis for couples at risk of transmitting particul...