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Clinical features of spinal muscular atrophy (SMA) type 2
Archives de Pédiatrie, 2020Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generally, psychomotor development is normal until the age of 6 to 8 months, with the acquisition of a stable sitting position. The early signs are muscle weakness, mostly affecting the lower limbs, generalized hypotonia and areflexia ...
C, Cancès +3 more
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Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disorder caused by bi-allelic pathogenic variants in the SMN1 gene. 95% of SMA patients have a SMN1 homozygous deletion. In the 5% remaining affected patients, a heterozygous SMN1 deletion is associated with an intragenic SMN1 rare inactivating pathogenic variant on the other allele ...
C, Rouzier +2 more
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Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020Spinal Muscular Atrophy (SMA) is a severe complex disorder involving different aspects of care and professionals. Helping individuals to achieve their best possible quality of life is an essential part of health care. A multidisciplinary approach to management across the range of actors improves the function, quality of life and longevity of patients ...
J, Ropars +4 more
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Spinal Muscular Atrophy (SMA) in the Therapeutic Era
Current Genetic Medicine Reports, 2019Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation in the SMN1 gene. It is relatively common worldwide, affecting approximately 1 in 11,000 live births, and about 1 in every 54 individuals is a carrier. The FDA-approved nusinersen (Spinraza) in December 2016 and onasmenogene abeparvovec (Zolgensma) in May 2019 for ...
Melissa Gibbons +2 more
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4th UK spinal muscular atrophy (SMA) researchers network meeting
Neuromuscular Disorders, 2008The fourth UK Spinal Muscular Atrophy Researchers Network Meeting was held at the Oxford Belfry Hotel on the 21st and 22nd November 2007. The meeting was focused on three main research areas: (1) SMN protein function, (2) Therapeutic strategies in SMA and (3) SMA animal models.
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Genetic testing and risk assessment for spinal muscular atrophy (SMA)
Human Genetics, 2002Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typical SMA.
Shuji, Ogino, Robert B, Wilson
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1985
The spinal muscular atrophies are a group of inherited disorders characterized by degeneration of anterior horn cells (Figure 5.1) and progressive muscle weakness. Pearn1 has defined seven separate SMA syndromes on a clinical and genetic basis, of which acute infantile and chronic childhood SMA form the majority.
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The spinal muscular atrophies are a group of inherited disorders characterized by degeneration of anterior horn cells (Figure 5.1) and progressive muscle weakness. Pearn1 has defined seven separate SMA syndromes on a clinical and genetic basis, of which acute infantile and chronic childhood SMA form the majority.
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Functional and surgical treatments in patients with spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020Spinal muscular atrophies (SMA type 1, 2, 3) present with various severities according to the motor semeiology related to lesions of the peripheral nervous system (lesions of the anterior horn cells motoneuron or even brain stem). Early motor deficiency causes skeletal deformities responsible for the alteration or even absence of motor skills ...
C, Boulay +3 more
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Isokinetic test and exercise in spinal muscular atrophy (SMA)
Images of the Twenty-First Century. Proceedings of the Annual International Engineering in Medicine and Biology Society, 2003Six patients, (four children aged 6 to 12, and two young men aged 17 and 23) affected by the mild form of SMA underwent bilateral isokinetic tests and isokinetic strengthening exercise on the weaker leg three times weekly for 1 month. Children obtained an average of 33% of increase in muscle strength for both extensors and flexors of the knee in the ...
C. Granata +5 more
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Infantile spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020B, Chabrol, I, Desguerre
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