Vahid Mansouri, Morteza Heidari, Maryam Bemanalizadeh, Reza Azizimalamiri, Shahriar Nafissi, Masood Ghahvechi Akbari, Mohammad Barzegar, Ali Reza Moayedi, Reza Shervin Badv, Mahmood Mohamadi, Ali Reza Tavasoli, Susan Amirsalari, Ali Khajeh, Soroor Inaloo, Farzad Fatehi, Sareh Hosseinpour, Meisam Babaei, Seyed Ahmad Hosseini, Seyyed Mohammad Mahdi Hosseiny, Afshin Fayyazi, Firoozeh Hosseini, Mehran Beiraghi Toosi, Nahid Khosroshahi, Homa Ghabeli, Habibeh Nejad Biglari, Simin Khayatzadeh Kakhki, Seyed Hossein Mirlohi, Elham Bidabadi, Bahram Mohammadi, Abdolmajid Omrani, Mostafa Sedighi, Mohammad Vafaee-Shahi, Maryam Rasulinezhad, Seyyed Mohamad Hoseini, Mojtaba Movahedinia, Zahra Rezaei, Parviz Karimi, Hossein Farshadmoghadam, Saeed Anvari, Omid Yaghini, Jafar Nasiri, Gholamreza Zamani, Mahmoud Reza Ashrafi
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...
February 6, 2023: Journal of Neuromuscular Diseases