Results 1 to 10 of about 605,611 (288)
Orphanet Journal of Rare Diseases, 2011 Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Estimated incidence is 1 in 6,000 to 1
D'Amico Adele +3 more
doaj +6 more sources
Diagnostic Code Ambiguity and Misclassification of Adults With Spinal Muscular Atrophy: Single-Center Chart Review [PDF]
JMIR Medical InformaticsIn a single US health system, fewer than one in three adults flagged by spinal muscular atrophy–associated diagnostic codes had molecularly confirmed spinal muscular atrophy (positive predictive value 27%), with the majority miscoded across clinically ...
Gabriel Holly +4 more
doaj +2 more sources
Seminars in Pediatric Neurology, 2021 Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years: nusinersen, onasemnogene abeparvovec, and risdiplam.
Stefan, Nicolau +3 more
core +4 more sources
Pediatric Neurology Briefs, 1990 Juvenile chronic segmental spinal muscular atrophy of Hirayama is described in two adult identical twins from the Department of Neurology, University of Vermont College of Medicine, Burlington, VT.
J Gordon Millichap
doaj +2 more sources
Anaesthetic Management of Spinal Muscular Atrophy For Laparoscopic Cholecystectomy [PDF]
The Indian Anaesthetists' Forum, 2006 We report the anaesthetic management of a female patient with Spinal Muscular Atrophy (SMA) presented for laparoscopic cholecystectomy. In order to avoid prolonged recovery; we chose to use total intravenous anaesthesia (TIVA) with propofol and ...
Dr. E. Argyra / Dr. C. Staikou / Dr. G. Polymeneas / Dr. C. M. Markatou
doaj +1 more source
Spinal muscular atrophy and ependymoma
Saudi Journal of Medicine and Medical Sciences, 2017 Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy and weakness.
Aishah Albakr +3 more
doaj +3 more sources
Spinal muscular atrophy (Werdnig‑Hoffmann atrophy disease) [PDF]
Archives of the Balkan Medical Union, 2018 Introduction. Spinal muscular atrophy type 1 is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and atrophy.
Mariana A. RYZNYCHUK +4 more
doaj +1 more source
Development of Therapies for Spinal Muscular Atrophy Using Gene Therapy and Nanotechnology [PDF]
, 2013 Spinal muscular atrophy (SMA) is a genetic disease which is characterized by muscle weakness and atrophy. The disease arises from mutations in the survival motor neuron 1 (SMN1) gene causing degeneration of spinal cord motor neurons.
Little, Daniel
core +6 more sources
Biomarkers in spinal muscular atrophy
Frontiers in NeurologySpinal muscular atrophy is a hereditary disorder leading to severe neuromuscular impairment. With the introduction of disease-modifying therapies in recent years, the role of biomarkers has expanded from aiding diagnosis to monitoring treatment responses,
Liping Yan +3 more
doaj +3 more sources
Proximal spinal muscular atrophy: current orthopedic perspective
The Application of Clinical Genetics, 2013 Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is ...
Haaker G, Fujak A
doaj +1 more source