scholarly journals Les instrumentations rachidiennes sans fusion vertébrale dans les scolioses neuromusculaires

2021 ◽  
Vol 37 ◽  
pp. 36-39
Author(s):  
Étienne Saudeau
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Early Stage ◽  
Neuromuscular Scoliosis ◽  
Less Invasive ◽  
Spine Deformities ◽  
Invasive Techniques

Less invasive techniques are now available to treat neuromuscular scoliosis efficiently. Rods can be implanted safely and at an early stage to correct and prevent further spine deformities. These techniques are particularly adapted to children with spinal muscular atrophy. The expansion of rods is possible magnetically or mechanically and enables to follow the spine growth timeline optimally. Of note, a risk a metallosis has been reported for some magnetic rods available on the market.

scholarly journals P.154 Subcutaneous intrathecal catheter and port implants for administration of Nusinersen in patients with Spinal Muscular Atrophy

2021 ◽  
Vol 48 (s3) ◽  
pp. S64-S64
Author(s):  
A Bokeris ◽  
D Mcneely ◽  
c restrepo ◽  
J Sheriko
Keyword(s):  
Spinal Cord ◽  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Medication Administration ◽  
Intrathecal Baclofen ◽  
Outpatient Setting ◽  
Intrathecal Catheter ◽  
Spine Deformities ◽  
Health Canada

Background: Until recently, no effective treatment was available for spinal muscular atrophy (SMA). In 2017, Health Canada approved intrathecal Nusinersen a medication that prevents degeneration of the motor neurons in the spinal cord. The administration is intrathecally most commonly via lumbar puncture (LP) to have a direct effect on the motor neurons of the spinal cord. Many older patients with SMA and concomitant spinal deformities present technical challenges to access the thecal sac. Different routes have been described for delivery of the medication whoever these techniques may require sedation, are associated with radiation exposure, and demand experience personnel. Methods: A new surgical technique has been proposed to overcome these obstacles by combining two Health Canada approved devices: 1) an intrathecal catheter designed for intrathecal baclofen pumps and 2) an implantable subcutaneous port designed for intravascular medication administration Results: We describe the technical nuances and outline the clinical outcomes of six patients with complex spine deformities who have undergone such an implant for administration of Nusinersen. Conclusions: We discuss the benefits of the procedure which includes: 1) administration in the outpatient setting without sedation, 2) avoidance of costly imaging and experienced personnel, and 3) placement of the catheter in the cervicothoracic junction.

scholarly journals Intrathecal nusinersen administration in adult spinal muscular atrophy patients with complex spinal anatomy

2020 ◽  
Vol 13 ◽  
pp. 175628641988761 ◽  
Author(s):  
Isabell Cordts ◽  
Paul Lingor ◽  
Benjamin Friedrich ◽  
Verena Pernpeintner ◽  
Claus Zimmer ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Drug Efficacy ◽  
Intrathecal Administration ◽  
Common Adverse Event ◽  
Ct Guided ◽  
Severe Scoliosis ◽  
Delayed Treatment ◽  
Spine Deformities ◽  
Alternative Routes

Background: Intrathecal administration of nusinersen in adult spinal muscular atrophy (SMA) patients presents challenges owing to severe scoliosis and previous spinal surgery with metal implantation. In patients with a complex spinal situation, the potential risks of the intrathecal administration may lead to delayed treatment initiation. Methods: In this study, we analyzed 53 CT-guided lumbar punctures of 11 adult nonambulatory SMA type 2 and 3 patients. All patients had scoliosis and six patients had previously undergone metal implantation. Results: Drug administration was successful in 100% of the patients and none of the patients opted for treatment discontinuation. Complete osseous fusion precluded conventional posterior interlaminar access in eight lumbar punctures in four patients, which required alternative routes including transforaminal punctures and translaminar drilling. Median duration of all lumbar punctures was 9 min and median radiation exposure was 100 mGy* cm. The most common adverse event was post-lumbar puncture syndrome that occurred in five lumbar punctures (9.4%). Conclusions: Our data demonstrate that nusinersen can be successfully, safely, and rapidly administered in adult SMA patients with complex spinal conditions and suggest the translaminar drilling technique as an alternative delivery route. Therefore, intrathecal nusinersen treatment should not be withheld from patients because of severe spine deformities, however, drug efficacy in adult SMA patients needs to be investigated in further studies.

scholarly journals SURGICAL TREATMENT OF SEVERE NEUROMUSCULAR SCOLIOSIS IN PATIENTS WITH SPINAL MUSCULAR ATROPHY

2011 ◽  
pp. 31-37 ◽  
Author(s):  
Andrey Baklanov ◽  
◽  
Sergey Kolesov ◽  
Ilya Shavyrin ◽  
◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Neuromuscular Scoliosis

Small nuclear RNAs and mRNAs: linking RNA processing and transport to spinal muscular atrophy

2013 ◽  
Vol 41 (4) ◽  
pp. 871-875 ◽  
Author(s):  
Judith Sleeman
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Early Stage ◽  
Cell Type Specificity ◽  
Sm Proteins ◽  
Spinal Motor Neurons ◽  
Survival Of Motor Neurons ◽  
Smn Protein ◽  
Multicellular Organisms

The splicing of pre-mRNA by the spliceosome is a characteristic feature of eukaryotic cells, dependent on a group of snRNPs (small nuclear ribonucleoproteins). These splicing snRNPs have a complex assembly pathway involving multiple steps that take place in different regions of the cell, which is reflected in their complex subcellular distribution. Vital to the assembly of splicing snRNPs is the protein SMN (survival of motor neurons). In multicellular organisms, SMN acts in the cytoplasm, together with its associated protein complex to assemble a heptameric ring of proteins called the Sm proteins as an early stage in splicing snRNP assembly. A deficiency of the SMN protein results in the inherited neurodegenerative condition SMA (spinal muscular atrophy), a leading cause of infant mortality specifically affecting spinal motor neurons. It has long been a puzzle how lowered levels of a protein required for a process as fundamental as splicing snRNP assembly can result in a condition with such a definite cell-type-specificity. The present review highlights recent research that points to wider roles in RNA metabolism for both SMN itself and the Sm proteins with which it is linked.

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