Diaphragm Pacing in Spinal Muscular Atrophy

Neurosurgery ◽  
1981 ◽  
Vol 9 (3) ◽  
pp. 317-319 ◽  
Author(s):  
Robert R. Richardson ◽  
Bruce Roseman ◽  
Naunihal Singh
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Ventilatory Support ◽  
Diaphragm Pacing ◽  
Electrode Recording ◽  
Transcutaneous Stimulation ◽  
Alveolar Hypoventilation ◽  
Phrenic Nerves ◽  
Psychological Improvement ◽  
Pulmonary Status

Abstract A patient with a diagnosis of intermediate or benign spinal muscular atrophy was severely incapacitated from respiratory complications and alveolar hypoventilation and was confined to mechanical ventilatory support. After extensive diagnostic evaluation of her pulmonary status, including transcutaneous stimulation of the phrenic nerves associated with nasogastric and surface electrode recording of the diaphragmatic response, this patient had a phrenic neurostimulation system implanted bilaterally for diaphragm pacing. Although spinal muscular atrophy has not been previously recognized as an indication for diaphragm pacing, her subsequent social, physical, and psychological improvement indicate that it may be significantly beneficial in selected cases of alveolar hypoventilation due to spinal muscular atrophy or neuromuscular disease.

Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen

2021 ◽  
pp. 1-8
Author(s):  
Rodrigo de Holanda Mendonça ◽  
Graziela Jorge Polido ◽  
Ciro Matsui ◽  
Davi Jorge Fontoura Solla ◽  
Umbertina Conti Reed ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Disease Duration ◽  
Muscular Atrophy ◽  
Ventilatory Support ◽  
Invasive Ventilation ◽  
Spinal Muscular Atrophy Type ◽  
Progressive Muscle Weakness ◽  
Predictors Of Response ◽  
The Mean

Background Spinal muscular atrophy type 1 (SMA1) is a motor neuron disease associated with progressive muscle weakness, ventilatory failure, and reduced survival. Objective: To report the evaluation of the nusinersen, an antisense oligonucleotide, on the motor function of SMA1. Methods This was a longitudinal and observational study to assess the outcomes of nusinersen therapy in SMA1 patients using the HINE-2 and CHOP-INTEND scales. Results Twenty-one SMA1 patients (52.4% males) were included; the mean age at first symptoms was 2.7 months (SD =±1.5), and the mean disease duration at first dose was 34.1 (SD =±36.0) months. During posttreatment, the mean gain on the CHOP-INTEND was 4.9, 5.9, 6.6, and 14 points after 6, 12, 18, and 24 months, respectively. Starting medication with a disease duration of less than 12 months and/or without invasive ventilation were predictors of response on CHOP-INTEND. Of the patients, 28.6% acquired a motor milestone or gained at least three points on the HINE-2. The daily time for ventilatory support was reduced after treatment in most of the patients with noninvasive ventilation at baseline. No change in the daytime use of ventilation was observed in most of the patients using invasive ventilation at baseline. Conclusions Nusinersen produces improvements in motor and respiratory functions, even in long-term SMA1 patients. However, patients under invasive ventilation at the beginning of the treatment experience little benefit.

scholarly journals Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110087
Author(s):  
Katarzyna Pierzchlewicz ◽  
Izabela Kępa ◽  
Jacek Podogrodzki ◽  
Katarzyna Kotulska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Age Groups ◽  
Ventilatory Support ◽  
Gene Replacement ◽  
Motor Disability ◽  
Smn2 Gene ◽  
Disease Modifying ◽  
Smn Protein

Spinal muscular atrophy (SMA) is a genetic condition characterized by progressive motoneuron loss. Infants affected by SMA type 1 do not gain developmental milestones and acutely decline, requiring ventilatory support. Several scales are used to assess motor disability and its progression in SMA. Recently, 3 disease-modifying therapies have been approved for SMA patients: nusinersen, an intrathecal antisense oligonucleotide enhancing SMN protein production by the SMN2 gene, risdiplam, also influencing the SMN2 gene to stimulate SMN production but administered orally, and onasemnogene abeparvovec-xioi, an SMN1 gene replacement therapy. Thus, the functional scales should now be applicable for patients improving their motor function over time to assess treatment efficacy. In this paper, we compare different functional scales used in SMA patients. Their usefulness in different SMA types, age groups, and feasibility in daily clinical practice is described below. Some changes in motor function assessments in SMA are also suggested.

Long-term ventilatory support in spinal muscular atrophy

1989 ◽  
Vol 115 (6) ◽  
pp. 904-909 ◽  
Author(s):  
Irene S. Gilgoff ◽  
Emily Kahlstrom ◽  
Eithne MacLaughlin ◽  
Thomas G. Keens
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Ventilatory Support

Diaphragm Pacing in Spinal Muscular Atrophy

Neurosurgery ◽  
1981 ◽  
Vol 9 (3) ◽  
pp. 317-319
Author(s):  
Robert R. Richardson ◽  
Bruce Roseman ◽  
Naunihal Singh
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Diaphragm Pacing
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