scholarly journals A CASE OF NEONATAL SPINAL MUSCULAR ATROPHY WITH SEPSIS LIKE PRESENTATION

2021 ◽  
Vol 7 (2) ◽  
pp. 136-139
Author(s):  
Oznur Yilmaz Gondal ◽  
Ebru Yalin Imamoglu ◽  
Elif Yuksel Karatoprak
Keyword(s):  
Early Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Neonatal Intensive Care ◽  
Muscular Atrophy ◽  
Severe Form ◽  
Diagnosis And Treatment ◽  
Treatment Modalities ◽  
Type I ◽  
Reactive Protein ◽  
New Treatment

Introduction: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease causing degeneration of nerves at anterior horn of spinal cord. The most common and severe form is SMA type 1 which starts before 6 months of age. Patients do not survive more than 2 years and usually die of respiratory failure. Although there was no specific cure for the disease until the last 3 years, new treatment modalities, with the improving gene-technology have given good results in progression of the disease and early diagnosis and treatment gained importance. Case: A male 28-days-old baby visited our clinic for routine physical examination and was found to be slightly hypotonic. He had decreased strength in sucking and crying and had slowing in motion in the last 4-5 days. C-reactive protein level was slightly elevated. Since he had a sepsis-like presentation, he was referred to neonatal intensive care unit (ICU). He was given antibiotics and monitored. However, in follow-up he became more hypotonic and deep tendon reflexes were lost. He was diagnosed as SMA type I and was referred for nusinersen (antisense-oligonucleotide) treatment. After treatment, he showed a good progress in motor functions and still does not need any respiratory support. Conclusions: We presented this case to draw attention to SMA in differential diagnosis of hypotonic newborns with sepsis-like presentation and emphasize the importance of early diagnosis and treatment.

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

scholarly journals Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

2021 ◽  
Vol 7 (2) ◽  
pp. 26
Author(s):  
Jaime E. Hale ◽  
Basil T. Darras ◽  
Kathryn J. Swoboda ◽  
Elicia Estrella ◽  
Jin Yun Helen Chen ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
New England ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Treatment Options ◽  
Newborn Screening Program ◽  
Treatment Protocols ◽  
Screening Algorithm ◽  
New Treatment

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by Real-Time™ quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit.

scholarly journals Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation

2021 ◽  
Vol 40 (4) ◽  
pp. 1578-1587
Author(s):  
Andrea Foppiani ◽  
Ramona De Amicis ◽  
Alessandro Leone ◽  
Simone Ravella ◽  
Giorgio Bedogni ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Fat Mass ◽  
Muscular Atrophy ◽  
Type I ◽  
Internal Validation ◽  
Spinal Muscular Atrophy Type ◽  
Children Development

SMN mRNA and protein levels in peripheral blood

Neurology ◽  
2006 ◽  
Vol 66 (7) ◽  
pp. 1067-1073 ◽  
Author(s):  
C. J. Sumner ◽  
S. J. Kolb ◽  
G. G. Harmison ◽  
N. O. Jeffries ◽  
K. Schadt ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Disease Severity ◽  
Peripheral Blood ◽  
Muscular Atrophy ◽  
Gene Copy ◽  
Blood Levels ◽  
Type I ◽  
Protein Levels ◽  
Smn Protein

Background: Clinical trials of drugs that increase SMN protein levels in vitro are currently under way in patients with spinal muscular atrophy.Objective: To develop and validate measures of SMN mRNA and protein in peripheral blood and to establish baseline SMN levels in a cohort of controls, carriers, and patients of known genotype, which could be used to follow response to treatment.Methods: SMN1 and SMN2 gene copy numbers were determined in blood samples collected from 86 subjects. Quantitative reverse transcription PCR was used to measure blood levels of SMN mRNA with and without exon 7. A cell immunoassay was used to measure blood levels of SMN protein.Results: Blood levels of SMN mRNA and protein were measured with high reliability. There was little variation in SMN levels in individual subjects over a 5-week period. Levels of exon 7-containing SMN mRNA and SMN protein correlated with SMN1 and SMN2 gene copy number. With the exception of type I SMA, there was no correlation between SMN levels and disease severity.Conclusion: SMN mRNA and protein levels can be reliably measured in the peripheral blood and used during clinical trials in spinal muscular atrophy, but these levels do not necessarily predict disease severity.

Orthodontic management of impacted mandibular second molars: A case series

2021 ◽  
Vol 14 (2) ◽  
pp. 98-104
Author(s):  
Andrea Cunningham ◽  
Dipali Patel ◽  
Zahra Sheriteh
Keyword(s):  
Early Diagnosis ◽  
Clinical Relevance ◽  
Case Series ◽  
Diagnosis And Treatment ◽  
Treatment Modalities ◽  
Individual Basis ◽  
Diagnosis And Management

This case series describes a number of different treatment modalities used in the management of impacted mandibular second molars (MM2s). A variety of cases is used to illustrate a number of ways in which these teeth can be managed, and to demonstrate that each case should be managed on an individual basis, taking into account the overall malocclusion. The importance of early diagnosis and management is highlighted throughout. CPD/Clinical Relevance: This case series highlights the difficulties and challenges in managing patients who present with impacted lower second molars (MM2s), and the importance of early diagnosis and treatment.

scholarly journals 2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia

2021 ◽  
Vol 9 ◽  
Author(s):  
Fahad A. Bashiri ◽  
Mohamad-Hani Temsah ◽  
Khalid Hundallah ◽  
Fahad Alsohime ◽  
Yazed AlRuthia
Keyword(s):  
Gene Therapy ◽  
Saudi Arabia ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Management Strategies ◽  
Annual Conference ◽  
Type I ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Society Annual

Novel therapeutic strategies have shown some promise in treating spinal muscular atrophy (SMA). However, the outcomes and acceptance of these new strategies are yet to be explored. We aimed to investigate physicians' opinions and perceptions toward management strategies of SMA across Saudi Arabia. This is a cross-sectional survey using a self-administered, structured questionnaire sent to physicians who care for SMA patients during the Saudi Pediatric Neurology Society annual conference. A total of 72 clinicians of different neurological subspecialties were included. 48.6% prescribed nusinersen to their patients, with 39% of them having patients started on nusinersen. Though, 8.3% prescribed onasemnogene abeparvovec for 1–3 patients, while none of their patients started on the treatment. 64.3% stated that the only treatment available for SMA in their settings is supportive care. Around 69.4% described having a moderate to high knowledge on SMA gene therapy, and 79.2% would recommend it. 48.6% confirmed they would prescribe gene therapy at the age of 6 months, and 78.3% would prescribe it for type-I SMA. Pediatric neurologists are receptive to novel and innovative therapies for SMA in Saudi Arabia. However, the high treatment acquisition cost, strict regulations, logistical issues, and budget constraints delay their adoption and implementation.

scholarly journals Drug treatment for spinal muscular atrophy type I

2019 ◽  
Author(s):  
Renske I Wadman ◽  
W Ludo van der Pol ◽  
Wendy MJ Bosboom ◽  
Fay-Lynn Asselman ◽  
Leonard H van den Berg ◽  
...  
Keyword(s):  
Drug Treatment ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Spinal Muscular Atrophy Type
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