Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls
نویسندگان
چکیده
Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, inability to sit without support, and deficient levels survival motor neuron (SMN) protein. Risdiplam orally administered small molecule that modifies SMN2 pre–messenger RNA splicing increases functional SMN protein in blood.
منابع مشابه
Eighteen Years with Spinal Muscular Atrophy (SMA) Type 1
INTRODUCTION SMA-1, also known as Werdnig-Hoffmann disease, is the most common neuromuscular disease of hypotonic newborns. Its incidence is over 1 per 8000 births and is a common cause of sudden infant death syndrome. It is characterized by the degeneration of the anterior horn cells of the spinal cord and of the motor nuclei in the lower brainstem (1). About 99% of patients have deletions in ...
متن کاملSpinal muscular atrophy with respiratory distress type 1 (SMARD1)
BACKGROUND Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically and genetically distinct and uncommon variant of SMA that results from irreversible degeneration of α-motor neurons in the anterior horns of the spinal cord and in ganglion cells on the spinal root ganglia. AIMS To describe the clinical, electrophysiological, neuropathological, and genetic findings, a...
متن کاملSurvival of patients with spinal muscular atrophy type 1.
BACKGROUND Spinal muscular atrophy type 1 (SMA1) is a progressive disease and is usually fatal in the first year of life. METHODS A retrospective chart review was performed of SMA1 patients and their outcomes according to the following choices: letting nature take its course (NT); tracheostomy and invasive mechanical ventilation (TV); continuous noninvasive respiratory muscle aid (NRA), inclu...
متن کاملSpinal Muscular Atrophy: A Short Review Article
Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...
متن کاملVascular perfusion abnormalities in infants with spinal muscular atrophy.
Spinal muscular atrophy (SMA) is an important cause of death in children and SMA type I, also known as Werdnig-Hoffman disease, is the most severe form of this disease. We report 2 cases of infants with SMA I in whom a distal necrosis developed, a feature not previously reported. Poor perfusion, autonomic dysfunction, and position-dependent factors may all play a role in the development of this...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The New England Journal of Medicine
سال: 2021
ISSN: ['0028-4793', '1533-4406']
DOI: https://doi.org/10.1056/nejmoa2102047