Results 11 to 20 of about 393,528 (292)
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
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
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
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G9a promotes muscular atrophy in chronic aging and acute denervation
Animal DiseasesMuscular atrophy accompanied by neuromuscular junction (NMJ) denervation is often observed after long-term chronic diseases and aging and is associated with substantial morbidity and mortality.
Ying Jin +4 more
doaj +2 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
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
Electromyographic analysis in spinal progressive muscular atrophy, juvenile unilateral muscular atrophy, neural progressive muscular atrophy and myeloradiculoneuritis. [PDF]
Nagoya journal of medical science, 1966 1966-12Recently, as diagnostic aids of neurological science, not only electromyography but also other techniques such as motor nerve conduction velocity, evoked potentials and strength-duration curve have been performed.
IIDA, MITSUO +2 more
openaire +3 more sources
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
Protective Effect of Delta-Like 1 Homolog Against Muscular Atrophy in a Mouse Model [PDF]
Endocrinology and Metabolism, 2022 Background Muscle atrophy is caused by an imbalance between muscle growth and wasting. Delta-like 1 homolog (DLK1), a protein that modulates adipogenesis and muscle development, is a crucial regulator of myogenic programming.
Ji Young Lee +6 more
doaj +1 more source