Rapid molecular diagnosis of spinal muscular atrophy
نویسندگان
چکیده
منابع مشابه
Rapid 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 ...
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 کاملClinical and molecular diagnosis of spinal muscular atrophy.
The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is necessary to differentiate these from other causes and identify the SMA variants. In classical SMA, majority of the patients shows homozygous deletion of the telomeric SMN gene (SMN1) on chromosome 5q. The availability of DNA analysis has allowed proper genetic counseling and prenatal diagnosis ...
متن کاملMolecular diagnosis of spinal and bulbar muscular atrophy in Slovakia.
OBJECTIVES Molecular-genetic analysis is a determining step in setting the diagnosis of spinal and bulbar muscular atrophy (SBMA). We present the first nation-wide study and experience with this disease and its diagnosis in Slovakia. The study is enriched by comparison of genetic findings from Slovak patients to patients from other countries. METHODS Molecular-genetic analysis was performed f...
متن کاملO-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...
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ژورنال
عنوان ژورنال: The Indian Journal of Medical Research
سال: 2012
ISSN: 0971-5916
DOI: 10.4103/0971-5916.93416