The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy

The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy Publisher Pubmed

Mansouri V¹ ; Heidari M² ; Bemanalizadeh M^{2, 3} ; Azizimalamiri R⁴ ; Nafissi S⁵ ; Akbari MG⁶ ; Barzegar M⁷ ; Moayedi AR⁸ ; Badv RS² ; Mohamadi M² ; Tavasoli AR² ; Amirsalari S⁹ ; Khajeh A¹⁰ ; Inaloo S¹¹ Show All Authors

Mansouri V¹
Heidari M²
Bemanalizadeh M^{2, 3}
Azizimalamiri R⁴
Nafissi S⁵
Akbari MG⁶
Barzegar M⁷
Moayedi AR⁸
Badv RS²
Mohamadi M²
Tavasoli AR²
Amirsalari S⁹
Khajeh A¹⁰
Inaloo S¹¹
Fatehi F⁵
Hosseinpour S¹²
Babaei M¹³
Hosseini SA¹⁴
Mahdi Hosseiny SM¹⁵
Fayyazi A¹⁵
Hosseini F¹⁵
Toosi MB¹⁶
Khosroshahi N¹⁷
Ghabeli H²
Biglari HN¹⁸
Kakhki SK¹⁷
Mirlohi SH¹⁹
Bidabadi E²⁰
Mohammadi B²¹
Omrani A²²
Sedighi M²³
Vafaeeshahi M²⁴
Rasulinezhad M²⁴
Hoseini SM²⁵
Movahedinia M²⁶
Rezaei Z²
Karimi P²⁷
Farshadmoghadam H²⁸
Anvari S²⁹
Yaghini O³
Nasiri J³
Zamani G²
Ashrafi MR^{2, 30}

Show Affiliations

1. Gene Therapy Research Center, Digestive Diseases Research Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
2. Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
3. Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
4. Department of Pediatric Neurology, Golestan, Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
5. Neurology Department, Shariati Hospital, Iranian Neuromuscular Research Center (INMRC), Tehran University of Medical Sciences, Tehran, Iran
6. Physical Medicine and Rehabilitation Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
7. Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
8. Department of Pediatric Neurology, Children's Hospital, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
9. New Hearing Technologies Research Center, Baqiatallah University of Medical Sciences, Tehran, Iran
10. Department of Pediatrics, Children and Adolescent Health Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
11. Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
12. Department of Pediatrics, Division of Pediatric Neurology, Vali-e-Asr Hospital, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
13. Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
14. Department of Pediatrics, Taleghani Children's Hospital, Golestan University of Medical Sciences, Gorgan, Iran
15. Department of Pediatric Neurology, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
16. Department of Pediatric Neurology, Mashhad University of Medical Sciences, Mashhad, Iran
17. Department of Pediatrics, Division of Pediatric Neurology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran
18. Department of Pediatrics, School of Medicine, Afzalipour Hospital, Kerman University of Medical Sciences, Kerman, Iran
19. Pediatric Respiratory and Sleep Medicine Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
20. Guilan University of Medical Sciences, Rasht, Iran
21. Department of Pediatrics, Yasuj University of Medical Sciences, Yasuj, Iran
22. Department of Pediatrics, Faculty of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran
23. Department of Neurology, Kermanshah University of Medical Sciences, Kermanshah, Iran
24. Pediatric Neurology Department, Iran University of Medical Sciences, Tehran, Iran
25. Department of Pediatrics, School of Medicine, Semnan University of Medical Sciences, Semnan, Iran
26. Department of Pediatrics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
27. Department of Pediatric Diseases, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran
28. Department of Pediatrics, Children Growth Research Centre, Research Institute for Prevention of Non-Communicable Disease, Qazvin University of Medical Science, Qazvin, Iran
29. Department of Pediatrics, Division of Pediatric Neurology, Milad Hospital, Social Security Organisation, Tehran, Iran
30. Pediatric Cell and Gene Therapy Research Center (PCGTRC), Tehran University of Medical Sciences, Tehran, Iran

Source: Journal of Neuromuscular Diseases Published:2023

Abstract

Background: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined. Objective: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA). Methods: IRSMA has been established since 2018, and the demographic, clinical, and genetic characteristics of patients with SMA were recorded according to the methods of treat neuromuscular disease (TREAT-NMD) project. Results: By October 1, 2022, 781 patients with 5q SMA were registered. Of them, 164 patients died, the majority of them had SMA type 1 and died during the first 20 months of life. The median survival of patients with type 1 SMA was 23 months. The consanguinity rate in 617 alive patients was 52.4%, while merely 24.8% of them had a positive family history. The most common type of SMA in live patients was type 3. Morbidities were defined as having scoliosis (44.1%), wheelchair dependency (36.8%), tube feeding (8.1%), and requiring mechanical ventilation (9.9%). Most of the registered patients had a homozygous deletion of SMN1, while the frequency of patients with higher copy numbers of SMN2, was less in more severe types of the disease. Earlier onset of the disease was significantly seen in patients with lower copy numbers of SMN2. The neuronal apoptosis inhibitory protein (NAIP) gene deletion was associated with a higher incidence of more severe types of SMA, higher dependency on ventilators, tube feeding, and earlier onset of the disease. Conclusions: The IRSMA is the first established Iranian nationwide registry of patients with SMA. Using this registry, decision-makers, researchers, and practitioners can precisely understand the epidemiology, characteristics, and genetics of patients with SMA in Iran. © 2023 - IOS Press. All rights reserved.

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3. Cell-Based Therapy for Spinal Muscular Atrophy, Advances in Experimental Medicine and Biology (2020)

4. Distinct Genetic Variation and Heterogeneity of the Iranian Population, PLoS Genetics (2019)

5. The Quality of Life in Children With Spinal Muscular Atrophy: A Case–Control Study, BMC Pediatrics (2022)

6. Type 1 Diabetes Genetic Risk Score Discriminates Between Monogenic and Type 1 Diabetes in Children Diagnosed at the Age of <5 Years in the Iranian Population, Diabetic Medicine (2019)

Experts (# of related papers)

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Gholamreza Zamani Ghalehtaki (2)

Mahmoudreza Ashrafi (2)

Style	Citing Format
MLA	Mansouri V, et al.. "The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy." Journal of Neuromuscular Diseases, vol. 10, no. 2, 2023, pp. 211-225.
APA	Mansouri V, Heidari M, Bemanalizadeh M, Azizimalamiri R, Nafissi S, Akbari MG, Barzegar M, Moayedi AR, Badv RS, Mohamadi M, Tavasoli AR, Amirsalari S, Khajeh A, Inaloo S, Fatehi F, Hosseinpour S, Babaei M, Hosseini SA, Mahdi Hosseiny SM, ... Ashrafi MR (2023). The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy. Journal of Neuromuscular Diseases, 10(2), 211-225.
Chicago	Mansouri V, Heidari M, Bemanalizadeh M, Azizimalamiri R, Nafissi S, Akbari MG, Barzegar M, et al.. "The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy." Journal of Neuromuscular Diseases 10, no. 2 (2023): 211-225.
Harvard	Mansouri V et al. (2023) 'The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy', Journal of Neuromuscular Diseases, 10(2), pp. 211-225.
Vancouver	Mansouri V, Heidari M, Bemanalizadeh M, Azizimalamiri R, Nafissi S, Akbari MG, et al.. The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy. Journal of Neuromuscular Diseases. 2023;10(2):211-225.
BibTex	@article{ author = {Mansouri V and Heidari M and Bemanalizadeh M and Azizimalamiri R and Nafissi S and Akbari MG and Barzegar M and Moayedi AR and Badv RS and Mohamadi M and Tavasoli AR and Amirsalari S and Khajeh A and Inaloo S and Fatehi F and Hosseinpour S and Babaei M and Hosseini SA and Mahdi Hosseiny SM and Fayyazi A and Hosseini F and Toosi MB and Khosroshahi N and Ghabeli H and Biglari HN and Kakhki SK and Mirlohi SH and Bidabadi E and Mohammadi B and Omrani A and Sedighi M and Vafaeeshahi M and Rasulinezhad M and Hoseini SM and Movahedinia M and Rezaei Z and Karimi P and Farshadmoghadam H and Anvari S and Yaghini O and Nasiri J and Zamani G and Ashrafi MR}, title = {The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy}, journal = {Journal of Neuromuscular Diseases}, volume = {10}, number = {2}, pages = {211-225}, year = {2023} }
RIS	TY - JOUR AU - Mansouri V AU - Heidari M AU - Bemanalizadeh M AU - Azizimalamiri R AU - Nafissi S AU - Akbari MG AU - Barzegar M AU - Moayedi AR AU - Badv RS AU - Mohamadi M AU - Tavasoli AR AU - Amirsalari S AU - Khajeh A AU - Inaloo S AU - Fatehi F AU - Hosseinpour S AU - Babaei M AU - Hosseini SA AU - Mahdi Hosseiny SM AU - Fayyazi A AU - Hosseini F AU - Toosi MB AU - Khosroshahi N AU - Ghabeli H AU - Biglari HN AU - Kakhki SK AU - Mirlohi SH AU - Bidabadi E AU - Mohammadi B AU - Omrani A AU - Sedighi M AU - Vafaeeshahi M AU - Rasulinezhad M AU - Hoseini SM AU - Movahedinia M AU - Rezaei Z AU - Karimi P AU - Farshadmoghadam H AU - Anvari S AU - Yaghini O AU - Nasiri J AU - Zamani G AU - Ashrafi MR TI - The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy JO - Journal of Neuromuscular Diseases VL - 10 IS - 2 SP - 211 EP - 225 PY - 2023 ER -

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