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Spinal muscular atrophy (SMA).
Neurosciences (Riyadh, Saudi Arabia), 2011 Abdulaziz, Al-Saman, Osama, Mudhafar
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Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020Autosomal-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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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 ...
Véronique Paquis-Flucklinger +2 more
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A Provisional Transcript Map of the Spinal Muscular Atrophy (SMA) Critical Region [PDF]
European Journal of Human Genetics, 1995 YACs from the region containing the spinal muscular atrophy (SMA) locus at 5q12 have been used as probes in a direct screening of cDNA libraries to isolate 8 cDNAs, mapped to different YAC fragments. Three clones showed complete identity to the genes for cyclin B1 (CCNB1), the p44 subunit of the transcription factor BTF2 (BTF2p44), and cofilin (CFL ...
Chcm Buys +10 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 ...
Julie A. Parsons +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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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 ...
Sébastien Pesenti +3 more
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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. Espil +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 ...
Luciano Merlini +5 more
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Therapeutic Strategies for the Treatment of Spinal Muscular Atrophy (SMA) Disease
Current Genomics, 2006Spinal Muscular Atrophy (SMA) is a progressive neurodegenerative disorder characterised by the loss of upper and/or lower motor neurons. SMA is the leading genetic cause of infant mortality with an incidence of 1 in 6000 live births and a carrier frequency of about 1 in 50.
SANGIUOLO, FEDERICA CARLA +4 more
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