Spinal Muscular Atrophy Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Observational analysis of the immunogenicity and safety of various types of spinal muscular atrophy vaccines
ConclusionThese findings indicated that both the oral vaccine and inactivated vaccine had good safety and immunogenicity in infants aged ≥ 2 months. The sIPV group generated higher levels of neutralizing antibodies in serum, particularly evident in the post-immunization GMT levels for types II and III. (Source: Inflammopharmacology)
Source: Inflammopharmacology - February 3, 2024 Category: Drugs & Pharmacology Source Type: research

Spinal adhesive arachnoiditis in an adult patient with spinal muscular atrophy type 3 treated with intrathecal therapy
Spinal adhesive arachnoiditis is a chronic inflammatory process of the leptomeninges and intrathecal neural elements. The possible causes of arachnoiditis are: infections, injuries of spinal cord, surgical pro... (Source: BMC Neurology)
Source: BMC Neurology - January 24, 2024 Category: Neurology Authors: Jakub Ubysz, Magdalena Koszewicz, Joanna Bladowska and Slawomir Budrewicz Tags: Case Report Source Type: research

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 24, 2024 Category: Internal Medicine Authors: Emmanuelle Salort-Campana, Guilhem Sol é, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat Tags: Research Source Type: research

Methadone for the management of complex pain and opioid-induced hyperalgesia in a child with Spinal Muscular Atrophy Type 2
Ir Med J. 2024 Jan 18;117(1):901.NO ABSTRACTPMID:38260976 (Source: Ir Med J)
Source: Ir Med J - January 23, 2024 Category: General Medicine Authors: N Cleary O Munnelly Mulkerrin O O'Gorman F McElligot Source Type: research

Genes, Vol. 15, Pages 134: Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders
a Carmela Scuderi Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare autosomal recessive neurometabolic disorder caused by AADC deficiency, an enzyme encoded by the DDC gene. Since the enzyme is involved in the biosynthesis of serotonin and dopamine, its deficiency determines the lack of these neurotransmitters, but also of norepinephrine and epinephrine. Onset is early and the key signs are hypotonia, movement disorders (oculogyric crises, dystonia and hypokinesia), developmental delay and autonomic dysfunction. Taiwan is the site of a potential founder variant (IVS6+4A&gt;T) with a predicted i...
Source: Genes - January 21, 2024 Category: Genetics & Stem Cells Authors: Sandro Santa Paola Francesco Domenico Di Blasi Eugenia Borgione Mariangela Lo Giudice Marika Giuliano Rosa Pettinato Vincenzo Di Stefano Filippo Brighina Antonino Lupica Carmela Scuderi Tags: Article Source Type: research

Effect of Nusinersen Treatment on Quality of Life and Motor Function in Adult Patients with Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease characterized by degeneration of anterior horn cells in the spinal cord and motor nuclei in the lower brainstem nuclei. The most common forms of SMA are caused by deletions or mutations in survival motor neuron 1 (SMN1) on chromosome 5q13.2.1, resulting in insufficient production of the SMN protein [1]. In humans, two forms of the SMN gene are present on each allele: SMN1 and SMN2. The SMN2 gene differs from SMN1 in that it has a C>T substitution in exon 7 that interferes with RNA splicing in exon 7. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 19, 2024 Category: Neurology Authors: Nazan Şimşek Erdem, Gökçe Yağmur Güneş Gencer, Abir Alaamel, Hilmi Uysal Source Type: research

Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women
ConclusionAlthough the acceptability and awareness of SMA carrier screening in Chinese population has increased in recent years, it still fails to reach the ideal expectation. Our experience may provide a basis for and facilitate the popularization of SMA carrier screening in Shenzhen area. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Lijun Zhang, Junluan Mo, Lu Zhou, Xiaoxin Xu, Zhiyong Xu, Lei Zhang, Weiqing Wu Tags: ORIGINAL ARTICLE Source Type: research

Current Advances in Genetic Testing for Spinal Muscular Atrophy
Curr Genomics. 2023 Dec 20;24(5):273-286. doi: 10.2174/0113892029273388231023072050.ABSTRACTSpinal muscular atrophy (SMA) is one of the most common genetic disorders worldwide, and genetic testing plays a key role in its diagnosis and prevention. The last decade has seen a continuous flow of new methods for SMA genetic testing that, along with traditional approaches, have affected clinical practice patterns to some degree. Targeting different application scenarios and selecting the appropriate technique for genetic testing have become priorities for optimizing the clinical pathway for SMA. In this review, we summarize the ...
Source: Current Genomics - January 18, 2024 Category: Genetics & Stem Cells Authors: Yulin Zhou Yu Jiang Source Type: research

Internet of things (IoT)-based assistive system for patients with spinal muscular atrophy (SMA): a case report
CONCLUSION: The application of assistive technologies based on the IoT allows obtaining a practical solution that improves the development of daily activities in a patient with SMA-I.PMID:38217485 | DOI:10.1080/17483107.2023.2300045 (Source: Disability and Rehabilitation. Assistive Technology.)
Source: Disability and Rehabilitation. Assistive Technology. - January 13, 2024 Category: Rehabilitation Authors: Jos é Varela-Aldás William Avila-Armijos Guillermo Palacios-Navarro Source Type: research

A study on the incidence and prevalence of 5q spinal muscular atrophy in Canada using multiple data sources
Can J Neurol Sci. 2024 Jan 5:1-29. doi: 10.1017/cjn.2024.1. Online ahead of print.NO ABSTRACTPMID:38178730 | DOI:10.1017/cjn.2024.1 (Source: The Canadian Journal of Neurological Sciences)
Source: The Canadian Journal of Neurological Sciences - January 5, 2024 Category: Neurology Authors: Tiffany R Price Victoria Hodgkinson Grace Westbury Lawrence Korngut A Micheil Innes Christian R Marshall Tanya N Nelson Lijia Huang Jillian Parboosingh Jean K Mah Source Type: research

Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol
ConclusionsThe validation of this tool will facilitate the clinical evaluation of adult and adolescent patients with SMA and the quantification of their response to new treatments in both clinical practice and research. (Source: Neurology and Therapy)
Source: Neurology and Therapy - January 5, 2024 Category: Neurology Source Type: research