Pregnancy and delivery in women with spinal muscular atrophy

Elsheikh, Bakri; Zhang, Xiaoli; Swoboda, Kathryn J.; Chelnick, Sharon; Reyna, Sandra P.; Kolb, Stephen J.; Kissel, John T.

doi:10.1080/00207454.2017.1281273

Cited by 12 publications

(15 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This indicates that the use of the term mild disease to describe some ambulatory adults with SMA is relative and stems mainly from comparing their strength and functional abilities to those with severe forms of the disease. In our cohort, the mean distance walked in 6 minutes by the ambulatory adult with SMA (295 m) was significantly less than that reflected by normative data (571 ± 90 m) …”

Section: Discussioncontrasting

confidence: 75%

Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy

et al. 2019

Self Cite

View full text Add to dashboard Cite

Introduction: With the advent of disease-altering therapies for spinal muscular atrophy (SMA), there is a requirement to better characterize outcome measures, particularly in milder forms of disease.Methods: Maximal voluntary isometric contraction testing and 6-minute walk test (6MWT) performed in ambulatory SMA adults as part of the SMA-VALIANT trial were analyzed. Test-retest reliability and correlation with other candidate biomarkers and outcomes were investigated.Results: Maximal voluntary isometric contraction testing and 6MWT showed good test-retest reliability (intraclass correlation coefficient = 0.98 and 0.85, respectively).Maximal voluntary isometric contraction testing and 6MWT demonstrated very strong correlation (r = 0.83, P <. 0001), and each correlated with the SMA Functional Rating Scale (r = 0.7, P < .0001 and r = 0.65, P = .0001, respectively), lean muscle mass (r = 0.68, P < .0001 and r = 0.56, P = .001, respectively), and ulnar compound muscle action potential (r = 0.57, P = .0008 and r = 0.47, P = .008, respectively).Discussion: Maximal voluntary isometric contraction testing and 6MWT are suitable outcomes for use in ambulatory adults with SMA. Maximal voluntary isometric contraction testing may be preferable because of superior test-retest reliability and closer associations with other outcomes and biomarkers of neuromuscular function.adults, ambulatory, maximum voluntary isometric contraction testing, MVICT, six-minute walk test, SMA Functional Rating Scale, spinal muscular atrophy

show abstract

Section: Discussioncontrasting

confidence: 75%

Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy

et al. 2019

Self Cite

View full text Add to dashboard Cite

show abstract

“…There is no evidence that SMA affects fertility. 86 Prior to conception, patients should be offered genetic counseling to discuss risk of transmission to offspring which depending on the genetic status of the partner can range from offspring being heterozygous carriers to 50% risk of disease inheritance. 87 The available literature does not suggest that ectopic pregnancies or miscarriages occur at a higher rate than the normal population.…”

Section: Pregnancymentioning

confidence: 99%

Management of Spinal Muscular Atrophy in the Adult Population

2022

View full text Add to dashboard Cite

Spinal muscular atrophy (SMA) is a group of neurodegenerative disorders resulting from the loss of spinal motor neurons. 95% of patients share a pathogenic mechanism of loss of survival motor neuron (SMN) 1 protein expression due to homozygous deletions or other mutations of the SMN1 gene, with the different phenotypes influenced by variable copy numbers of the SMN2 gene. Advances in supportive care, disease modifying treatment and novel gene therapies have led to an increase in the prevalence of SMA, with a third of SMA patients now represented by adults.Despite the growing number of adult patients, consensus on the management of SMA has focused primarily on the pediatric population. As the disease burden is vastly different in adult SMA, an approach to treatment must be tailored to their unique needs. This review will focus on the management of the adult SMA patient as they age and will discuss proper transition of care from a pediatric to adult center, including the need for continued monitoring for osteoporosis, scoliosis, malnutrition, and declining mobility and functioning. As in the pediatric population, multidisciplinary care remains the best approach to the management of adult SMA.Novel and emerging therapies such as nusinersen and risdiplam provide hope for these patients, though these medications are of uncertain efficacy in this population and require additional study.

show abstract

“…пациенты при адекватном лечении и уходе доживают до взрослого возраста [4][5][6]. Были также отмечены немногочисленные случаи вынашивания беременности и родов у пациенток с поздним дебютом СМА [7,8].…”

Section: клиническое наблюдение спинальная мышечная атрофия общая харunclassified

“…Согласно данным исследования «Беременность и роды у женщин со спинальной мышечной атрофией», только 30% пациенток, знающих о наличии у них СМА, отказались от деторождения [8]. И несмотря на то, что 74% пациенток отметили нарастание клинических проявлений СМА в виде мышечной слабости во время беременности, а 42% -сохранение этого статуса и после родов кесаревым сечением, тем не менее 91% женщин не жалеют о своем выборе и были готовы в случае последующей беременности принять такое же решение.…”

Section: генетическая причина развития спинальной мышечной атрофииunclassified

“…Профилактика. Для предупреждения повторных случаев в семьях с риском СМА необходимы генетическое консультирование родителей (с обязательным преконцепционным молекулярным обследованием пробанда) c информированием о возможных клинических последствиях и (по показаниям) пренатальная ДНК-диагностика (с поиском у плода выявленной родительской мутации) в первом триместре беременности для принятия обоснованного решения о рождении или прерывании беременности [4,7,8].…”

Section: том 10 №1unclassified

See 1 more Smart Citation