منابع مشابه
Spinal 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 کاملEighteen 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 کاملSpinal muscular atrophy type 1: A noninvasive respiratory management approach.
STUDY OBJECTIVE To determine whether spinal muscular atrophy (SMA) type 1 can be managed without tracheostomy and to compare extubation outcomes using a respiratory muscle aid protocol vs conventional management. DESIGN A retrospective cohort study. METHODS Eleven SMA type 1 children were studied during episodes of respiratory failure. Nine children required multiple intubations. Along with...
متن کاملSpinal muscular atrophy type 1 quality of life.
OBJECTIVE To compare healthcare professionals' assessment of the quality of life of spinal muscular atrophy type 1 children with that of the care providers for the children. DESIGN The care providers of all 53 surviving spinal muscular atrophy type 1 children managed in one neuromuscular disease clinic were sent Likert-scale surveys of six quality of life issues and ten polar-adjective pairs....
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ژورنال
عنوان ژورنال: Pediatric Critical Care Medicine
سال: 2012
ISSN: 1529-7535
DOI: 10.1097/pcc.0b013e3182388ad1