muscular atrophy
Phenotypic and molecular insights into Spinal Muscular Atrophy due to mutations in BICD2
... Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome ...Spinal muscular atrophy, lower ex- tremity-predominant, is ...
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A continuous repetitive task to detect fatigability in spinal muscular atrophy
... girdle muscular dystrophy; LMM: Linear mixed model; MFM: Motor function measure; NMJ: Neuromuscular junction; PMA: Progressive muscular atrophy; r9HPT: Repeated Nine-Hole Peg Test; SMA: Spinal ...
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Proximal spinal muscular atrophy: current orthopedic perspective
... Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective “survival motor neuron” (SMN) protein that is mainly associated with proximal ...
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Impaired kidney structure and function in spinal muscular atrophy
... Spinal muscular atrophy (SMA), a devastating neuromuscular disease characterized by motor neuron degeneration and pro- gressive muscle atrophy, is a leading genetic cause of infantile death ...
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Digital necrosis in an infant with severe spinal muscular atrophy
... Spinal muscular atrophy (SMA) is the leading genetic cause of death for infants. 1,2 Digital necrosis is an ultra-rare manifestation of this disease, and its etiology has yet to be elucidated. 4,5 We ...
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Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
... spinal muscular atrophy with the significant analysis of very rare human muscle biopsies of the severe SMA type ...undergoing atrophy following different physiopathological conditions, but this is ...
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Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy
... Table 2 clinical characteristics of the liver study group B. Data shown are the average 6 SD for spinal and bulbar muscular atrophy (SBMA) group B, SBMA carriers, and male and female controls. Androgen ...
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Correlation of clinical and molecular features in spinal bulbar muscular atrophy
... spinal muscular atrophy (42.9%), followed by muscular dystrophy, Parkinson disease, myasthenia gravis, and amyotrophic lateral sclerosis (ALS) ...
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Nusinersen for Type 1 Spinal Muscular Atrophy: A Father’s Perspective
... We thought our younger son was healthy at birth, and we had high hopes for his future. His weak movements and excessive fussiness raised our concerns, leading to an unsuspected, devastating diagnosis of type 1 spinal ...
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Spinal Muscular Atrophy: Survival Pattern and Functional Status
... ABSTRACT. Objective. Spinal muscular atrophy (SMA) is common. The prevalence of SMA in southern Chinese is 1 in 53 000. The clinical course is variable. The traditional classification of SMA includes age of ...
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Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency
... Survival of motor neuron 1 –negative spinal muscular atrophy (SMA) is heterogeneous and remains a diagnostic challenge. The clinical spectrum continues to expand and ∼ 33 genes have been identified to date. ...
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A Case Study on Ayurvedic Management of Spinal Muscular Atrophy (SMA)
... Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in autosomal recessive pattern due to absence of SMN1 gene characterized by loss of motor neurons and progressive muscle ...
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Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy
... spinal muscular atrophy (SMA), and adeno-associated virus serotype 9–ubiquitin-like modifier activating enzyme 1–treated (AAV9-UBA1–treated) SMA mouse hearts and livers at P9 (scale bar: ...
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Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy
... Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder, which causes dysfunction/loss of lower motor neurons and muscle weakness as well as ...
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Newborn genetic screening for spinal muscular atrophy in the UK : the views of the general population
... Spinal muscular atrophy screening is currently in place in several countries internationally, with Qatar implement- ing compulsory premarital carrier screening, and countries, such as Australia and Israel, ...
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Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy
... bulbar muscular atrophy (SBMA), also known as Kennedy disease (KD), is a disabling adult onset neuromus- cular disorder that affects men and is primarily characterized by slowly progressive weakness and ...
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Therapeutic strategies for spinal muscular atrophy: SMN and beyond
... in 10,000 births (Crawford and Pardo, 1996). This autosomal recessive disorder, resulting from the loss-of-function of the survival motor neuron 1 (SMN1) gene, is characterized by loss of spinal cord motor neurons, ...
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Spinal muscular atrophy
... 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 ...
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MOLECULAR ANALYSIS OF THE PROMOTER REGION OF THE SMN2 GENE IN PATIENTS OF SPINAL MUSCULAR ATROPHY TOWARDS SCRUTINIZING THE CLINICAL SEVERITY OF SPINAL MUSCULAR ATROPHY
... Spinal muscular atrophy, the leading genetic cause of infant mortality, is an autosomal recessive disease that results from degeneration of motor neurons of the spinal ...spinal muscular ...
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The Effects of Rufinamide on in Vitro Spinal Muscular Atrophy Model
... Spinal muscular atrophy (SMA) is devastating genetic disease characterized by progressive loss of motor neuron and skeletal muscle weakness. SMA is the most common lethal genetic disease in infancy. SMA is ...
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