Results 71 to 80 of about 641,821 (189)

A Model for Spinal Muscular Atrophy Disease Registry for Iran [PDF]

Payesh
Objective(s): Spinal muscular atrophy is a rare genetic disease of neuromuscular and it is considered the main cause of death of newborns, which affects spinal motor neurons.
Hadiseh Azadi Cheshmekabodi, Farahnaz Sadoughi, Somayeh Nasiri   +2 more
doaj  

Spinal muscular atrophy [PDF]

, 1995
Spinal Muscular Atrophy (SMA) is one of many neuromuscular diseases affect ing motor neurons and skeletal muscles. This disorder causes deterioration of the motor neurons (specifically the Anterior Horn Cells of the spinal cord). These motor neurons that
Nowak, Deborah
core  

Spinal Muscular Atrophy Diagnosed by Newborn Screening

, 2019
A panel of experts representing academic centers, family foundations and pharmaceutical industry came together to formulate a treatment algorithm for infants diagnosed via newborn screening (NBS) with Spinal muscular atrophy (SMA).
Vamshi K Rao, Matias Lopez-Chacon, Amber N Buehner   +2 more
core   +1 more source

Clinical Characteristics of Cases with Spinal Muscular Atrophy

, 2016
Introduction: The aim of this study is was to evaluate the clinical features of cases with diagnosis of spinal muscular atrophy (SMA)
GÜMÜŞ, Hakan, Bahadır, Oğuzhan, KUMANDAŞ, Sefer, Bayram, Ayse Kacar, Bahadir, Oğuzhan, DÜNDAR, Munis, PER, Hüseyin, CANPOLAT, Mehmet   +7 more
core   +1 more source

PREGNANCY AND CHILDBIRTH IN A PATIENT WITH SPINAL MUSCULAR ATROPFY (CLINICAL CASE)

Мать и дитя в Кузбассе, 2020
Spinal muscle atrophy (SMA) is a group of diseases inherited by an autosomal recessive type and characterized by degeneration of cells of the anterior horns of the spinal cord.
Ирина Анатольевна Ушакова, Нонна Марковна Шибельгут, Игорь Анатольевич Гнусарев, Екатерина Владимировна Литовченко, Вадим Гельевич Мозес, Елена Владимировна Рудаева, Светлана Ивановна Елгина   +6 more
doaj  

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait

Neurology International
Spinal muscular atrophy is a neuromuscular genetic condition associated with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide therapy approved for the treatment of 5q spinal muscular atrophy in pediatric and adult ...
Asma AlTawari, Mohammad Zakaria, Walaa A. Kamel, Nayera Shaalan, Gamal Ahmed Ismail Elghazawi, Mohamed Esmat Anwar Ali, Dalia Salota, Amr Attia, Ehab Elsayed Ali Elanany, Osama Shalaby, Fatema Alqallaf, Vesna Mitic, Laila Bastaki   +12 more
doaj   +1 more source

Pharmacological management of spinal muscular atrophy

, 2023
Spinal muscular atrophy is an autosomal recessive inherited disease, which associate with SMN gene mutation. It presents with a wide range of symptoms from weakness, and fatigue of muscles to non-ambulatory, and death.
Le, Ngo Minh Tran
core  

Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients

Children
Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of
Stephanie Voight, Kapil Arya
doaj   +1 more source

Rapid Prenatal Diagnosis of Spinal Muscular Atrophy by Denaturing High- Performance Liquid Chromatography System

, 2011
Objective. Use of Denaturing High-Performance Liquid Chromatography ( DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA). Methods. Thirty-three members of 7 families participated in carrier test and disease detection of SMA.
蕭勝文;鄭博仁;張舜智;林玉婷;洪加政;陳持平;蘇怡寧, SHAW, SHENG-WEN;CHENG, PO-JEN;CHANG, SHUENN-DYH;LIN, YU-TING;HUNG, CHIA-CHENG;CHEN, CHIH-PING;SU, YI-NING   +1 more
core   +1 more source

Long-term survival in a child with arthrogryposis multiplex congenita and spinal muscular atrophy

, 2001
Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise.
Connolly AM, Di Giorgio A, Falsaperla R, Pavone P, Romeo G, Parano E, Di Giorgio, A   +6 more
core   +1 more source