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Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)
Archives De Pediatrie, 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 +1 more
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Respiratory management of children with spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020Spinal 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 +6 more
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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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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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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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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 ...
Ropars, J. +4 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, Cancès +3 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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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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