Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

Arnold, W. David; Kassar, Darine; Kissel, John T.

doi:10.1002/mus.24497

Cited by 321 publications

(392 citation statements)

References 126 publications

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“…1,3 It has been shown that another gene, SMN2, codes for a protein similar to that encoded by the SMN1 gene and multiple copies of SMN2 can somewhat compensate for the loss of the SMN1 gene and alleviate the severity of clinical symptoms observed. 5,6 SMA is classified into several types based on the age of onset of the disease and the degree of motor function achieved by the affected individual. 1,3 Approximately 50% of patients diagnosed with SMA have type I, which has an early onset; these infants usually do not survive beyond the first 2 years without intervention.…”

Section: Introductionmentioning

confidence: 99%

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

Lin

Kalb

Yeh

2015

Pediatric Neurology

116

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Section: Introductionmentioning

confidence: 99%

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

Lin

Kalb

Yeh

2015

Pediatric Neurology

116

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“…In severe cases, death ensues within the first 2 years of life. There are no approved treatments for SMA other than supportive care (2)(3)(4). SMA results from insufficient levels of the survival motor neuron (SMN) protein (5), which is produced by expression of the SMN1 and SMN2 genes.…”

Section: Introductionmentioning

confidence: 99%

ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice

Abera¹,

Xiao²,

Nofziger³

et al. 2016

JCI Insight

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“…[12,13] Prenatal diagnosis of SMA is critical for couples who are heterozygous for SMN1 gene deletion, although screening must be limited to families who already have children with SMA (or SMA presence in the extended family). We must remember that there is a significant de novo mutation rate (1.7%).…”

Section: Discussionmentioning

confidence: 99%

Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy

et al. 2018

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RESEARCHBackground. Spinal muscular atrophy (SMA) is a neurodegenerative disease which is characterised by progressive degeneration of motor neurons in the anterior horns of the spinal cord. It is a mainly chromosome 5-linked genetic disorder, with recessive inheritance and it can be diagnosed prenatally. Objective. To communicate the importance of prenatal diagnosis of spinal muscular atrophy (SMA) and to demonstrate the gestational outcomes of disease carrier pregnant women who have had invasive prenatal testing (IPT). Methods. We retrospectively evaluated 113 pregnancies of 76 patients who were referred to the Division of Perinatal Medicine at Haçettepe University in Ankara, Turkey for the prenatal diagnosis of SMA between 2000 and 2015. We evaluated the screening results and gestational outcomes of the patients. The pregnancy outcomes were compared with a control group of 179 patients. The Beksac Obstetrics Index (BOI) was used for the comparison of obstetrical histories/backgrounds of the study and control groups. Results. Chorionic villus sampling (CVS) and amniocentesis (AC) were performed in 83 (73.5%) and 30 (26.5%) cases, respectively. In 24 cases (21.2%), the fetuses were found to be disease-positive and 23 of them were terminated. The median gestational day at birth (p<0.001), median birthweights (p=0.002) and median BOI (p=0.001) of the study and control groups were compared and the differences were statistically significant. Conclusion. Prenatal diagnosis of SMA is very important and a nationwide special antenatal care programme must be established for better diagnosis and eradication of this genetic disorder. Spinal muscular atrophy (SMA) is a neurodegenerative disease which is characterised by progressive degeneration of motor neurons in the anterior horns of the spinal cord; the prevalence of SMA is 1 in 6 000 heterozygotes and 1 in 40 homozygotes. S Afr J Obstet Gynaecol[1]SMA is a mainly chromosome 5-linked genetic disorder, with recessive inheritance which results from genetic mutations in the survival motor neuron (SMN) genes.[2] Telomeric and duplicated centromeric genes (SMN1 and SMN2, respectively) play a role in the occurrence of SMA types 1 to 4 . There are also autosomal dominant (chromosome 14-linked) and X-linked forms of SMA. [3] SMA is associated with a wide spectrum of symptoms in terms of the age of onset and severity. The amount of functional SMN protein is critical to the extent of the symptoms, including hypotonia, muscle atrophy, paralysis and even death.[4] Normally, SMN1 genes produce fully functional SMN protein but this production is insufficient in the case of SMA. SMN2 genes also produce SMN protein but in different forms, and only a small percentage of this production is functional. Thus, the level of impaired SMN1 gene production and the contribution of the SMN2 gene determine the severity and progress of the disease. [5] As mentioned above, SMA has a wide spectrum of variability in phenotype with subtypes depending on the age of onset and clinical severity: [5,6] SMA...

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Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

Cited by 321 publications

References 126 publications

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice

Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy

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