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}

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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Behnaz Ansari (4)

Keivan Basiri (4)

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 -

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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