The 5 most read SMA articles of 2022

The most widely read spinal muscular atrophy (SMA) articles of the year discussed the detection of the novel SMN1 gene, advances in treatment, and the diagnostic difficulty faced by some adult SMA patients.

The 5 most read articles on spinal muscle atrophy (SMA) in 2022 covered advances in SMN1 SMA detection and treatments, the need for early detection, the unique diagnostic challenges faced by clinicians treating patients with adult-onset SMA, and more.

Here are the most read SMA articles of 2022.

5. Study: NGS may be a superior method for detecting SMN1 gene copy number

Detection of the SMN1 It is important to determine the number of copies of the gene in patients with SMA and in those who could be carriers due to the severity of the disease. Next generation sequencing (NGS) was found to have the best results among 3 methods, including multiplex ligation probe amplification and 478 samples. This study, published in scientific reportssuggests that NGS may provide an easier way to identify the SMN1 number of copies of the gene.

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4. Risdiplam may be superior for a certain type of SMA, based on an indirect comparison

An indirect comparison of 3 SMA treatments was completed and found that risdiplam might be a better option than nusinersen in the treatment of SMA type 1. For this SMA subtype, a potential link between risdiplam administration and free survival was observed. of positive events and overall survival, as well as lower reports of serious adverse events, compared with nusinersen. For SMA types 2 and 3, the trial circumstances differed and the safety and efficacy between risdiplam and nusinersen could not be determined. This study was published in January 2022 online at Comparative Effectiveness Research Journal.

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3. An Estonian-based study assesses the prevalence and characteristics of SMA diagnoses

A retrospective study conducted in Estonia evaluated data on SMA patients who received hospital referrals between 1996 and 2020. In that period in Estonia, 53 families saw 57 SMA diagnoses, with a prevalence of 1 case per 8286 births. SMA type 1 was the most prevalent, in 43.9% of patients. A substantial number of people (96.5%) had a homozygous deletion of SMN1. The researchers wanted to use the data as an implementation tool for SMA screening at birth in the country. This study was published by Frontiers in Geneticsyes in early 2022.

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2. Mild SMA presents diagnostic difficulties for clinicians

In adulthood, the symptoms of mild phenotype presentations of SMA (type III or IV) can provide ambiguous information to neurologists and radiologists. This article focused on a case report of a 32-year-old woman who presented with slight weakness in the lower back and increased fatigue when climbing stairs. Only when electromyography was performed were researchers urged to perform genetic testing, in which SMN1 gene analysis established a SMA 5q. The researchers explained that milder cases of SMA can create incorrect assumptions about the cause of the symptoms. The case report was published in Journal of Neurological Sciences in the summer of 2022.

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1. FDA Grants Risdiplam Priority Review in SMA for Babies Under 2 Months

Risdiplam was approved for children older than 2 months with SMA, and earlier this year the FDA granted priority review of a Supplemental New Drug Application (sNDA) for Evrysdi (risdiplam) to include presymptomatic infants younger than 2 months with Genetically confirmed SMA. At the time of the study, recruitment was still ongoing, but the researchers found that 80% of presymptomatic SMA infants who received risdiplam for at least 12 months achieved major motor milestones, such as rolling and walking independently. This study was published in January 2022 in

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