Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan.
Journalbrain & development1.504Date
2020 Jun 03
4 months ago
Journal Article
2020-Sep / 42 : 594-602
Okamoto K 1, Motoki T 2, Saito I 3, Urate R 4, Aibara K 2, Jogamoto T 2, Fukuda M 5, Wakamoto H 6, Maniwa S 7, Kondo Y 7, Toda Y 8, Goji A 8, Mori T 8, Soga T 9, Konishi Y 10, Nagai S 11, Takami Y 12, Tokorodani C 13, Nishiuchi R 13, Usui D 14, Ando R 15, Tada S 15, Yamanishi Y 15, Nagai M 15, Arakawa R 16, Saito K 16, Nishio H 17, Ishii E 18, Eguchi M 2
  • 2. Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan.
  • 3. Department of Public Health and Epidemiology, Faculty of Medicine, Oita University, Oita, Japan.
  • 4. Faculty of Medicine, Ehime University, Ehime, Japan.
  • 5. Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • 6. Department of Pediatrics, Ehime Rehabilitation Center For Children, Ehime, Japan.
  • 7. Department of Pediatrics, Matsuyama Red Cross Hospital, Ehime, Japan.
  • 8. Department of Pediatrics, Graduate School of Medical Sciences, Tokushima University, Tokushima, Japan.
  • 9. Department of Anesthesiology, Tokushima University Hospital, Tokushima, Japan.
  • 10. Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan.
  • 11. Department of Child Neurology, Shikoku Medical Center for Children and Adults, Kagawa, Japan.
  • 12. Department of Pediatrics, Takamatsu Red Cross Hospital, Kagawa, Japan.
  • 13. Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
  • 14. Department of Pediatrics, Tano Hospital, Kochi, Japan.
  • 15. Department of Clinical Pharmacology and Therapeutics, Ehime University Graduate School of Medicine, Ehime, Japan.
  • 16. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
  • 17. Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Hyogo, Japan; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Hyogo, Japan.
  • 18. Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan; Imabari City Medical Association Hospital, Ehime, Japan.
BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder associated with spinal motor neuron loss and characterized by generalized muscle weakness. Only a few reports exist on SMA epidemiology in Japan. Additionally, nusinersen recently became available as a treatment for this condition. We estimated the prevalence of each type of SMA on Shikoku, Japan's fourth-largest major island.
METHODS: We sent a questionnaire to all 131 hospitals in Shikoku that have pediatrics or neurology departments from March to September 2019, asking whether each hospital had SMA patients at that time. If so, we sent a second questionnaire to obtain more detailed information on the clinical data and treatment of each patient.
RESULTS: A total of 117 hospitals (89.3%) responded to our first questionnaire, and 21 SMA patients were reported, 16 of whom had homozygous deletion of SMN1. Of the 21, nine had SMA type 1, five were type 2, five were type 3, one was type 4, and one was unidentified. The estimated prevalence for all instances of SMA and 5q-SMA was 0.56 and 0.43 per 100,000 people, respectively. Thirteen patients had received nusinersen therapy. Its outcomes varied from no obvious effects and being unable to sit to being able to sit independently.
CONCLUSION: Our data showed the prevalence of SMA types 2 and 3 was relatively low on Shikoku compared with previous reports from other countries, suggesting delayed diagnosis may affect the results. Remaining motor function may be one predicting factor. Greater awareness of SMA among clinicians and patients seems necessary for more accurate epidemiological studies.
Keywords: Epidemiology Japan Nusinersen Prevalence Spinal muscular atrophy (SMA) Twins
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