Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy?

McWilliam, Robert; Gardner-Medwin, D.; Doyle, Daniel A.; Stephenson, John B.

doi:10.1136/adc.60.2.145

Cited by 32 publications

(9 citation statements)

References 14 publications

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“…24 Diaphragmatic paralysis and resulting respiratory distress was an initial manifestation of SMA in reports of six infants. [25][26][27] However, the status of SMN1 in these infants has not been determined. We speculate that the cause of some clinically unexplained infant deaths may be SMA.…”

Section: Discussionmentioning

confidence: 99%

Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center

Ogino

Leonard

Rennert

et al. 2002

The Journal of Molecular Diagnostics

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Approximately 94% of spinal muscular atrophy (SMA) patients lack both copies of SMN1 exon 7. We report our SMA genetic testing experience (total 1281 cases), using SMA linkage analysis (32 families), SMA diagnostic testing by PCR-RFLP (restriction fragment length polymorphism) to detect the homozygous absence of SMN1 exon 7 (and exon 8) (533 cases), and an assay to determine copy number of SMN1 exon 7 (SMN1 gene dosage analysis) (716 cases). SMN1 gene dosage analysis is used for SMA carrier testing as well as for the confirmation of a heterozygous SMN1 deletion in symptomatic individuals who do not lack both copies of SMN1. We conclude that comprehensive SMA testing, including SMN1 deletion analysis, SMN1 gene dosage analysis, and linkage analysis, offers the most complete evaluation of SMA patients and their families.

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Section: Discussionmentioning

confidence: 99%

Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center

Ogino

Leonard

Rennert

et al. 2002

The Journal of Molecular Diagnostics

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“…Another report described an infant who nearly suffered sudden death at the age of 7 weeks due to diaphragmatic paralysis and was later diagnosed to have Type I SMA [17]. Diaphragmatic paralysis and respiratory distress were reported as initial manifestations of SMA in six infants [18][19][20]. However, the diagnosis of SMN1related SMA may not be appropriate in a setting of muscle weakness that is predominantly distal and the status of SMN1 in these infants was not determined.…”

Section: Atypical Featuresmentioning

confidence: 99%

Spinal muscular atrophy: molecular genetics and diagnostics

Ogino¹,

Wilson²

2004

Expert Review of Molecular Diagnostics

131

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Spinal muscular atrophy is one of the most common autosomal recessive diseases, affecting approximately one in 10,000 live births and with a carrier frequency of approximately one in 50. Spinal muscular atrophy is caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the SMN genes, SMN1 and SMN2. Due to a single nucleotide polymorphism (840C>T), SMN2 produces less full-length transcript than SMN1 and cannot entirely prevent neuronal cell death at physiologic gene dosages. The 38-kDa SMN protein comprises 294 amino acids and is involved in the biogenesis of uridine-rich small nuclear ribonucleoproteins, facilitating their cytoplasmic assembly into the spliceosome. Various animal models have been developed to study the pathogenesis of spinal muscular atrophy, as well as to test novel therapeutics. Common PCR-restriction fragment length polymorphism assays can detect the homozygous absence of SMN1 in approximately 94% of patients with clinically typical spinal muscular atrophy. SMN gene dosage analysis can determine the copy number of SMN1 to detect carriers and patients heterozygous for the absence of SMN1. Due to the genetic complexity and the high carrier frequency, accurate risk assessment and genetic counseling are particularly important. Comprehensive SMA genetic testing, combined with appropriate genetic counseling and risk assessment, provides the most complete evaluation of patients and their families at this time. New technologies, such as monosomal analysis techniques, may be widely available in the future.

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“…Another report described an infant who almost suffered sudden death at the age of 7 weeks because of diaphragmatic paralysis and was later diagnosed as having type I SMA (Poets et al 1990). Diaphragmatic paralysis and respiratory distress were reported as initial manifestations of SMA in six infants (McWilliam et al 1985;Mellins et al 1974;Sivan and Galvis 1990). However, the diagnosis of SMN1-related SMA may not be appropriate in a setting of muscle weakness that is predominantly distal, and the status of SMN1 in these infants was not determined.…”

Section: Smn1 and Sudden Infant Death Syndromementioning

confidence: 99%

Genetic testing and risk assessment for spinal muscular atrophy (SMA)

2002

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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. Approximately 30 small intragenic SMN1 mutations have also been described. These mutations are present in many of the approximately 6% of SMA patients who do not lack both copies of SMN1, whereas SMA of other patients without a homozygous absence of SMN1 is unrelated to SMN1. A commonly used polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) assay can be used to detect a homozygous absence of SMN1 exon 7. SMN gene dosage analyses, which can determine the copy numbers of SMN1 and SMN2 (an SMN1 homolog and a modifier for SMA), have been developed for SMA carrier testing and to confirm that SMN1 is heterozygously absent in symptomatic individuals who do not lack both copies of SMN1. In conjunction with SMN gene dosage analysis, linkage analysis remains an important component of SMA genetic testing in certain circumstances. Genetic risk assessment is an essential and integral component of SMA genetic testing and impacts genetic counseling both before and after genetic testing is performed. Comprehensive SMA genetic testing, comprising PCR-RFLP assay, SMN gene dosage analysis, and linkage analysis, combined with appropriate genetic risk assessment and genetic counseling, offers the most complete evaluation of SMA patients and their families at this time. New technologies, such as haploid analysis techniques, may be widely available in the future.

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Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy?

Cited by 32 publications

References 14 publications

Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center

Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center

Spinal muscular atrophy: molecular genetics and diagnostics

Genetic testing and risk assessment for spinal muscular atrophy (SMA)

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