Carrier testing for spinal muscular atrophy
نویسندگان
چکیده
منابع مشابه
Genetic testing for spinal muscular atrophy.
We would be particularly interested to hear more about the clinical phenotype and epidemiology of this cohort of patients. The authors have, for example, included phenotypic patients with facial weakness in their grouping. This is of significance because the international guidelines (ENMC, 1998) regard these as exclusion criteria for SMA. In our cohort of patients, facial weakness in the SMA mo...
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 کاملNewborn and carrier screening for spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The homozygous absence of SMN1 exon 7 has been observed in the majority of patients and is being utilized as a reliable and sensitive SMA diagnostic test. Treatment and prevention of SMA are complement...
متن کاملNusinersen for spinal muscular atrophy
Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (http...
متن کاملSpinal Muscular Atrophy Panel
Test code: NE1801 The Blueprint Genetics Spinal Muscular Atrophy Panel is a 27 gene test for genetic diagnostics of patients with clinical suspicion of distal hereditary motor neuropathy or spinal muscular atrophy. Spinal muscular atrophies (SMAs) are inherited in an autosomal dominant, autosomal recessive or X-linked manner. In addition to deletion or gene conversion of SMN1 and copy number va...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2010
ISSN: 1098-3600,1530-0366
DOI: 10.1097/gim.0b013e3181ef6079