Release Date: 2024-04-04

Newborn Screening for Spinal Muscular Atrophy

Huseyin Tan (Author), Elif Yildirim (Author)

Release Date: 2024-04-04

Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by the loss of motor neurons, leading to muscle weakness and atrophy. It has a global incidence of approximately 1 in 6,000 to 11,000 live births and is a significant hereditary cause of infant mortality. SMA is classified into five subtypes based on the age [...]

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Work TypeBook Chapter
Published inNewborn and Childhood Screening Programmes
First Page89
Last Page92
DOIhttps://doi.org/10.69860/nobel.9786053358961.7
ISBN978-605-335-896-1 (PDF)
LanguageENG
Page Count4
Copyright HolderNobel Tıp Kitabevleri
Licensehttps://nobelpub.com/publish-with-us/copyright-and-licensing

Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by the loss of motor neurons, leading to muscle weakness and atrophy. It has a global incidence of approximately 1 in 6,000 to 11,000 live births and is a significant hereditary cause of infant mortality. SMA is classified into five subtypes based on the age and maximal degree of function. These subtypes are; type 0 (the most severe form), type 1 (Werdnig-Hoffmann disease), type 2 (Dubowitz disease), type 3 (Kugelberg-Welander disease), and type 4 (adult form, the mildest form). The disease is caused by mutations in the motor neuron survival gene 1 (SMN1) on chromosome 5. Recent advancements in treatment, particularly with the drugs nusinersen, onasemnogene abeparvovec and risdiplam have significantly improved the prognosis and motor functions of affected infants. The efficacy of these treatments is highly dependent on the timing of initiation, with the best outcomes observed in presymptomatic patients. Early intervention, ideally in the neonatal period, is crucial for maximizing therapeutic benefits. Expanding newborn screening programs and promoting early treatment strategies for SMA can transform the prognosis for affected infants, leading to healthier lives and reduced disease burden. These efforts are critical in ensuring that all children with SMA have the best possible start in life and can reach their full potential.

Huseyin Tan (Author)
Professor, Ataturk University
https://orcid.org/0000-0003-3331-1828
3Professor Dr. Hüseyin Tan, who has been working as a pediatric neurologist at Atatürk University Faculty of Medicine for nearly 25 years, graduated from the same university as a medical doctor in 1991. Between 1991 and 1993, after completing his compulsory service in Erzurum SSK Hospital, he started his pediatric specialty training in Atatürk University Faculty of Medicine, Department of Pediatrics in the same year. After completing his pediatric specialty training in 1998, he was appointed as an assistant professor in the same year. In 2001, he completed his pediatric neurology training at Hacettepe University Faculty of Medicine. Dr. Tan became an associate professor in 2005 and a professor in 2010. He is still working at Atatürk University, Department of Pediatric Neurology.

Elif Yildirim (Author)
Ataturk University
https://orcid.org/0000-0003-3920-4847
3Dr.Elif Yildirim; graduated from Cerrahpaşa Faculty of Medicine (in English program) in 2011. One year later, she started to work as a ‘pediatrics assistant’ at Istanbul University, Department of Child Health and Diseases. Then, she served as a pediatrician at Kanuni Sultan Süleyman Training and Research Hospital between 2018 and 2021.In 2021, she started to work as a child neurology assistant at Ataturk University, Medical Faculty in Department of Child Neurology. She is currently working at the same faculty.

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