scholarly journals Evaluation of upper extremity performance and grip force before and after scoliosis surgery in spinal muscular atrophy: case study

2019 ◽  
Vol 8 (1) ◽  
pp. 19-22
Author(s):  
Seda Ayaz Taş ◽  
Tamer Çankaya
Keyword(s):  
Spinal Muscular Atrophy ◽  
Upper Extremity ◽  
Grip Force ◽  
Muscular Atrophy ◽  
Scoliosis Surgery ◽  
Before And After

scholarly journals Spinal Muscular Atrophy after Nusinersen Therapy: Improved Physiology in Pediatric Patients with No Significant Change in Urine, Serum, and Liquor 1H-NMR Metabolomes in Comparison to an Age-Matched, Healthy Cohort

Metabolites ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 206
Author(s):  
Leon Deutsch ◽  
Damjan Osredkar ◽  
Janez Plavec ◽  
Blaž Stres
Keyword(s):  
Machine Learning ◽  
Spinal Muscular Atrophy ◽  
1H Nmr ◽  
Pediatric Patients ◽  
Muscular Atrophy ◽  
Male And Female ◽  
Before And After ◽  
Healthy Cohort ◽  
Males And Females ◽  
Urine Serum

Spinal muscular atrophy (SMA) is a genetically heterogeneous group of rare neuromuscular diseases and was until recently the most common genetic cause of death in children. The effects of 2-month nusinersen therapy on urine, serum, and liquor 1H-NMR metabolomes in SMA males and females were not explored yet, especially not in comparison to the urine 1H-NMR metabolomes of matching male and female cohorts. In this prospective, single-centered study, urine, serum, and liquor samples were collected from 25 male and female pediatric patients with SMA before and after 2 months of nusinersen therapy and urine samples from a matching healthy cohort (n = 125). Nusinersen intrathecal application was the first therapy for the treatment of SMA by the Food and Drug Administration (FDA) and the European Medicines Agency (EMA). Metabolomes were analyzed using targeted metabolomics utilizing 600 MHz 1H-NMR, parametric and nonparametric multivariate statistical analyses, machine learning, and modeling. Medical assessment before and after nusinersen therapy showed significant improvements of movement, posture, and strength according to various medical tests. No significant differences were found in metabolomes before and after nusinersen therapy in urine, serum, and liquor samples using an ensemble of statistical and machine learning approaches. In comparison to a healthy cohort, 1H-NMR metabolomes of SMA patients contained a reduced number and concentration of urine metabolites and differed significantly between males and females as well. Significantly larger data scatter was observed for SMA patients in comparison to matched healthy controls. Machine learning confirmed urinary creatinine as the most significant, distinguishing SMA patients from the healthy cohort. The positive effects of nusinersen therapy clearly preceded or took place devoid of significant rearrangements in the 1H-NMR metabolomic makeup of serum, urine, and liquor. Urine creatinine was successful at distinguishing SMA patients from the matched healthy cohort, which is a simple systemic novelty linking creatinine and SMA to the physiology of inactivity and diabetes, and it facilitates the monitoring of SMA disease in pediatric patients through non-invasive urine collection.

The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy type II patients

2016 ◽  
Vol 26 (6) ◽  
pp. 1721-1731 ◽  
Author(s):  
Shih-Hsiang Chou ◽  
Gau-Tyan Lin ◽  
Po-Chih Shen ◽  
Yi-Jing Lue ◽  
Cheng-Chang Lu ◽  
...  
Keyword(s):  
Pulmonary Function ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Scoliosis Surgery ◽  
Type Ii ◽  
Spinal Muscular Atrophy Type

scholarly journals AN AYURVEDIC MANAGEMENT OF SPINAL MUSCULAR ATROPHY (SMA) – A CASE STUDY

2021 ◽  
Vol 9 (11) ◽  
pp. 2897-2902
Author(s):  
Raheena B ◽  
Shaila Borannavar ◽  
Ananta S Desai
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Erect Posture ◽  
Smn1 Gene ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in the autosomal recessive pattern due to the absence of the SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, this condition can be considered as Kulaja Vyadhi wherein the patient’s Mamsa and Snayu is affected by Vata. This can be regarded as Mamsa-Snayugata Sarvanga Vata. It is said that Prakruta Vata dosha is the life, it is the strength, it is the sustainer of the body, it holds the body and life together. If it is Vikruta it produces Sankocha, Khanja, Kubjatva, Pangutva, Khalli and Soshana of Anga. So, in this disease aggravated Vata does the vitiation of Mamsa and Snayu thus leading to Soshana of both, resulting in Stambha, Nischalikarana of Avayava. A 21years female patient was admitted to our I.P.D with c/o of reduced strength in all four limbs leading to the inability to walk and to maintain erect posture during standing and sitting positions. Based on Ayurvedic principles the patient was initially subjected to Avaranahara Chikitsa followed by Brimhana line of management. Keywords: Mamsagata vata, Snayugata vata, Sarvanga vata, Spinal muscular atrophy (SMA)

Impact of scoliosis surgery on pulmonary function in patients with muscular dystrophies and spinal muscular atrophy

2020 ◽  
Vol 55 (4) ◽  
pp. 1037-1042
Author(s):  
Harold J. Farber ◽  
William A. Phillips ◽  
Kenneth L. Kocab ◽  
Darrell S. Hanson ◽  
John A. Heydemann ◽  
...  
Keyword(s):  
Pulmonary Function ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Muscular Dystrophies ◽  
Scoliosis Surgery

Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy

Neurology ◽  
2019 ◽  
Vol 93 (2) ◽  
pp. e149-e158 ◽  
Author(s):  
Camiel A. Wijngaarde ◽  
Rob C. Brink ◽  
Floor A.S. de Kort ◽  
Marloes Stam ◽  
Louise A. M. Otto ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Population Based ◽  
Natural Course ◽  
Lifetime Risk ◽  
Scoliosis Surgery ◽  
Long Term Effects ◽  
Cross Sectional ◽  
Stand Type ◽  
Type 3

ObjectiveTo investigate the natural course of scoliosis and to estimate lifetime probability of scoliosis surgery in spinal muscular atrophy (SMA).MethodsWe analyzed cross-sectional data from 283 patients from our population-based cohort study. Additional longitudinal data on scoliosis progression and spinal surgery were collected from 36 consecutive patients who received scoliosis surgery at our center.ResultsThe lifetime probability of receiving scoliosis surgery was ≈80% in SMA types 1c and 2. Patients with type 2 who only learned to sit (type 2a) were significantly younger at time of surgery than those who learned to sit and stand (type 2b). The lifetime risk of surgery was lower in type 3a (40%) and strongly associated with age at loss of ambulation: 71% in patients losing ambulation before 10 years of age vs 22% losing ambulation after the age of 10 years (p = 0.005). In type 3a, preserving the ability to walk 1 year longer corresponded to a 15% decrease in lifetime risk of scoliosis surgery (hazard ratio 0.852, p = 0.017). Scoliosis development was characterized by initial slow progression, followed by acceleration in the 1.5- to 2-year period before surgery.ConclusionThe lifetime probability of scoliosis surgery is high in SMA types 1c and 2 and depends on age at loss of ambulation in type 3. Motor milestones such as standing that are not part of the standard classification system are of additional predictive value. Our data may act as a reference to assess long-term effects of new SMA-specific therapies.

scholarly journals Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy,

2014 ◽  
Vol 40 (5) ◽  
pp. 528-534 ◽  
Author(s):  
Tanyse Bahia Carvalho Marques ◽  
Juliana de Carvalho Neves ◽  
Leslie Andrews Portes ◽  
João Marcos Salge ◽  
Edmar Zanoteli ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Pulmonary Function ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Pulmonary Function Tests ◽  
Congenital Muscular Dystrophy ◽  
Spinal Deformities ◽  
Respiratory Complications ◽  
Function Tests ◽  
Before And After

OBJECTIVE: Respiratory complications are the main causes of morbidity and mortality in patients with neuromuscular disease (NMD). The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy (SMA) and in patients with congenital muscular dystrophy (CMD), as well as to identify associations between spinal deformities and the effects of the maneuvers. METHODS: Eighteen NMD patients (ten with CMD and eight with SMA) were submitted to routine daily air-stacking maneuvers at home with manual resuscitators for four to six months, undergoing pulmonary function tests before and after that period. The pulmonary function tests included measurements of FVC; PEF; maximum insufflation capacity (MIC); and assisted and unassisted peak cough flow (APCF and UPCF, respectively) with insufflations. RESULTS: After the use of home air-stacking maneuvers, there were improvements in the APCF and UPCF. In the patients without scoliosis, there was also a significant increase in FVC. When comparing patients with and without scoliosis, the increases in APCF and UPCF were more pronounced in those without scoliosis. CONCLUSIONS: Routine daily air-stacking maneuvers with a manual resuscitator appear to increase UPCF and APCF in patients with NMD, especially in those without scoliosis.

scholarly journals The impact of scoliosis surgery on pulmonary function in spinal muscular atrophy: a systematic review

2021 ◽  
Author(s):  
Abduljabber Alhammoud ◽  
Yahya Othman ◽  
Ron El-Hawary ◽  
William G. Mackenzie ◽  
Jason J. Howard
Keyword(s):  
Pulmonary Function ◽  
Spinal Muscular Atrophy ◽  
Primary Outcome ◽  
Muscular Atrophy ◽  
Scoliosis Surgery ◽  
Inclusion Criteria ◽  
Rate Of Decline ◽  
The Impact ◽  
Function Testing

AbstractScoliosis often occurs coincident with pulmonary function deterioration in spinal muscular atrophy but a causal relationship has not yet been reliably established. A systematic literature review was performed, with pulmonary function testing being the primary outcome pre- and post-scoliosis surgery. Levels of evidence were determined and GRADE recommendations made. Ninety studies were identified with only 14 meeting inclusion criteria. Four studies were level III and the rest were level IV evidence. The average age at surgical intervention was 11.8 years (follow-up 6.1 years). Post-operative pulmonary function progressively declined for the majority of studies. Otherwise, pulmonary function: improved (two studies), were unchanged (two studies), had a decreased rate of decline (three studies), declined initially then returned to baseline (two studies). Respiratory and spine-based complications were common. Given the available evidence, the following GRADE C recommendations were made: (1) surgery is most often associated with decreases in pulmonary function; (2) the impact of surgery on pulmonary function is variable, but does not improve over pre-operative baseline; (3) surgery may result in a decreased rate of decline in pulmonary function post-operatively. Given this lack of evidence-based support, the risk–benefit balance should be taken into consideration when contemplating scoliosis surgery.

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