Results 181 to 190 of about 19,843 (235)

Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease)

Archives de Pédiatrie, 2020
Spinal muscular atrophy type I, also called Werdnig-Hoffmann disease, is the most serious form. The disease appears before the age of 6 months and is characterized by major global hypotonia and abolition of tendon reflexes, with children never being able to sit unaided. Cognitive development is normal and the expressive gaze of these children contrasts
F, Audic, C, Barnerias
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Respiratory management of children with spinal muscular atrophy (SMA)

Archives de Pédiatrie, 2020
Spinal muscular atrophy (SMA) causes a predominantly bilateral proximal muscle weakness and atrophy. The respiratory muscles are also involved with a weakness of the intercostal muscles and a relatively spared diaphragm. This respiratory muscle weakness translates into a cough impairment, resulting in poor clearance of airway secretions and recurrent ...
Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M   +6 more
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Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA)

Archives de Pédiatrie, 2020
Autosomal-recessive spinal muscular atrophy (SMA) is characterized by the loss of specific motor neurons of the spinal cord and skeletal muscle atrophy. SMA is caused by mutations or deletions of the survival motor neuron 1 (SMN1) gene, and disease severity correlates with the expression levels of the nearly identical copy gene, SMN2.
Lefebvre, S., Sarret, Catherine
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Clinical features of spinal muscular atrophy (SMA) type 2

Archives de Pédiatrie, 2020
Infantile 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, C, Richelme, C, Barnerias, C, Espil   +3 more
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Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)

Archives de Pédiatrie, 2020
Spinal 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, A, Chaussenot, V, Paquis-Flucklinger   +2 more
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Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA)

Archives de Pédiatrie, 2020
Spinal 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, S, Peudenier, A, Genot, C, Barnerias, C, Espil   +4 more
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Spinal Muscular Atrophy (SMA) in the Therapeutic Era

Current Genetic Medicine Reports, 2019
Spinal 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, Anne Stratton, Julie Parsons   +2 more
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4th UK spinal muscular atrophy (SMA) researchers network meeting

Neuromuscular Disorders, 2008
The 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, 2002
Spinal 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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