Abstract
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that results in progressive muscle atrophy and weakness. As new therapies for SMA have been developed, newborn screening for SMA can lead to early diagnosis and treatment. The objective of this study was to gather the general population’s view on screening of SMA in newborns in Japan. A questionnaire survey was conducted on two general population groups in Japan. A total of 269 valid responses were obtained. In the general population, about half of the participants had no knowledge about SMA, and more than 90% did not know about new therapies for SMA. Conversely, more than 95% of the general population agreed with screening newborns for SMA because they believed that early diagnosis was important, and treatments were available. This study revealed that the general population in Japan mostly agreed with screening for SMA in newborns even though they did not know much about SMA. Newborn screening for SMA is promising, but it is in very early stages. Therefore, SMA newborn screening should be performed with sufficient preparation and consideration in order to have a positive impact on SMA patients and their families.
Highlights
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene, affecting approximately1 in 6000 to 10,000 live births [1]
All SMA patients who were treated with nusinersen at our hospital during 2020 to 2021 were included
All eight participants agreed with the SMA newborn screening (Figure 3a)
Summary
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene, affecting approximately1 in 6000 to 10,000 live births [1]. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene, affecting approximately. SMA is characterized by the degeneration of motor neurons in the spinal cord, resulting in progressive muscle atrophy and weakness. Depending on the age of onset and the highest motor milestones achieved, SMA is traditionally classified into clinical subtypes (0–IV) [4,5]. Type 0 is the most severe phenotype and has a prenatal onset. The most frequent phenotype is type I, manifesting in the first six months of life, and results in the child being unable to sit without support. Most type I infants die before the age of 2 years old because of respiratory failure without mechanical ventilation [6]. SMA is the leading genetic cause of death in infants [7]
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