All Relations between Muscle Weakness and Muscular Atrophy

Publication Sentence Publish Date Extraction Date Species
Yuewei Chi, Yue Qiao, Ying M. Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024-07-07. PMID:38972959. spinal muscular atrophy (sma) is a rare neuromuscular disease, which is characterized by the degeneration of motor neurons, leading to symmetrical muscle weakness and atrophy. description of two novel smn1 mutations (patient1: c.683t > a, p.leu228ter; patient2: c.347 t > c, p.ile116 thr). we reported two patients with smn1 mutations with the clinical features, and provided a literature review of the previously reported 22 cases. two sma patients showed progressive proximal lower limb weakness and milder clinical symptom. 2024-07-07 2024-07-11 Not clear
Elena Abati, Eleonora Mauri, Martina Rimoldi, Barbara Madini, Francesca Patria, Giacomo Pietro Comi, Stefania Cort. Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments? Frontiers in neurology. vol 15. 2024-06-19. PMID:38895692. spinal muscular atrophy (sma) is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy, resulting from the degeneration of motor neurons in the spinal cord. 2024-06-19 2024-06-21 Not clear
T Nanda, S Nanda, A Manna, J Mukherjee, M Mandal, J Benito-Leó. Limb-girdle muscle weakness and muscle hypertrophy: Do not dismiss spinal muscular atrophy. Revue neurologique. 2024-06-18. PMID:38890053. limb-girdle muscle weakness and muscle hypertrophy: do not dismiss spinal muscular atrophy. 2024-06-18 2024-06-21 Not clear
Felix Rivera Troia, Fernando Ocasio Vill. An Insightful Observation Leading to a Late Diagnosis of Spinal Muscular Atrophy: A Case Report. Cureus. vol 16. issue 5. 2024-06-08. PMID:38846202. spinal muscular atrophy (sma) is a rare autosomal recessive neuromuscular disorder characterized by the loss of motor neurons in the spinal cord that results in progressive muscle weakness and atrophy. 2024-06-08 2024-06-10 Not clear
Prachi Sharma, Sham Lohiya, Keta Vagha, Jayant D Vagha, Himanshu Raj, Roshan Prasa. Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report. Cureus. vol 16. issue 2. 2024-03-11. PMID:38465139. spinal muscular atrophy (sma) indicates a set of inherited autosomal recessive genetic disorders, where, specifically, the anterior horn cell motor neurons in the brain and spinal cord are affected, leading to a severe form of hypotonia and muscle weakness. 2024-03-11 2024-03-14 Not clear
Charles Kumi Hammond, Emmanuel Oppong, Emmanuel Ameyaw, Joslin Alexei Dogb. Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series. The Pan African medical journal. vol 46. 2024-01-29. PMID:38282771. spinal muscular atrophy (sma) is an autosomal recessive inherited motor neuron disease characterized by progressive muscle weakness due to degeneration and loss of the anterior horn cells in the spinal cord and the brain stem nuclei from foetal life through infancy and childhood. 2024-01-29 2024-01-31 Not clear
Chunchu Deng, Hong Che. Brain-derived neurotrophic factor/tropomyosin receptor kinase B signaling in spinal muscular atrophy and amyotrophic lateral sclerosis. Neurobiology of disease. 2023-12-13. PMID:38092270. changes in bdnf levels and full-length trkb (trkb-fl) signaling have been revealed in spinal muscular atrophy (sma) and amyotrophic lateral sclerosis (als), two common forms of motor neuron diseases that are characterized by defective neuromuscular junctions in early disease stages and subsequently progressive muscle weakness. 2023-12-13 2023-12-17 Not clear
Faruq Ahmed, Asma Islam, Suria Akter, Md Abdullah Al Zubayer, Md Nasim Mahmud, Hosneara Yeasmin, Zannatul Maw. Multidisciplinary physical rehabilitation program of individuals with spinal muscular atrophy in an inclusive school setting. Journal of pediatric rehabilitation medicine. 2023-11-26. PMID:38007681. spinal muscular atrophy (sma) is a neuromuscular ailment that leads to the deprivation of motor neurons in the spinal cord, producing denervation and muscle weakness. 2023-11-26 2023-11-28 Not clear
George Khludenev, Elise Le Cam, Bujji B Ainapurap. Non-diabetic Euglycemic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II. Cureus. vol 15. issue 9. 2023-10-24. PMID:37868546. spinal muscular atrophy (sma) is a rare neuromuscular disease that develops as a result of the degeneration of the anterior horn cells in the spinal cord and lower brainstem motor nuclei, resulting in progressive muscle weakness and atrophy. 2023-10-24 2023-11-08 Not clear
Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczy. Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience. Orphanet journal of rare diseases. vol 18. issue 1. 2023-08-04. PMID:37542300. spinal muscular atrophy (sma) is an autosomal recessive disorder caused by a biallelic mutation in the smn1 gene, resulting in progressive muscle weakness and atrophy. 2023-08-04 2023-08-14 Not clear
Julian Theuriet, Gorka Fernandez-Eulate, Philippe Latour, Tanya Stojkovic, Marion Masingue, Léo Vidoni, Emilien Bernard, Arnaud Jacquier, Laurent Schaeffer, Emmanuelle Salort-Campana, Jean-Baptiste Chanson, Aleksandra Nadaj Pakleza, Anne-Laure Kaminsky, Juliette Svahn, Véronique Manel, Françoise Bouhour, Antoine Pega. Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing. European journal of human genetics : EJHG. 2023-06-19. PMID:37337091. proximal spinal muscular atrophy (sma) is defined by a degeneration of the anterior horn cells resulting in muscle weakness predominantly in the proximal lower limbs. 2023-06-19 2023-08-14 Not clear
Zorica Nakevska, Toshifumi Yokot. Challenges and future perspective of antisense therapy for spinal muscular atrophy: A review. European journal of cell biology. vol 102. issue 2. 2023-06-09. PMID:37295266. spinal muscular atrophy (sma), the most common genetic cause of infantile death, is caused by a mutation in the survival of motor neuron 1 gene (smn1), leading to the death of motor neurons and progressive muscle weakness. 2023-06-09 2023-08-14 Not clear
Anastasia Gromova, Byeonggu Cha, Erica M Robinson, Laura M Strickland, Nhat Nguyen, Mai K ElMallah, Constanza J Cortes, Albert R La Spad. X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease. Acta neuropathologica communications. vol 11. issue 1. 2023-06-02. PMID:37269008. x-linked spinal and bulbar muscular atrophy (sbma; kennedy's disease) is a rare neuromuscular disorder characterized by adult-onset proximal muscle weakness and lower motor neuron degeneration. 2023-06-02 2023-08-14 mouse
Aya Oda, Kana Oue, Mitsuhiro Yoshid. Spinal Muscular Atrophy Type III Recognized After Delayed Recovery From Neuromuscular Blockade After an Orthognathic Surgery. The Journal of craniofacial surgery. 2023-05-30. PMID:37253240. spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disease characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. 2023-05-30 2023-08-14 Not clear
Lakshmi Balaji, Michelle A Farrar, Arlene M D'Silva, Didu S Kariyawasa. Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective. Expert review of neurotherapeutics. 2023-05-25. PMID:37227306. the clinical application of disease modifying therapies has dramatically changed the paradigm of the management of people with spinal muscular atrophy (sma), from sole reliance on symptomatic care directed towards the downstream consequences of muscle weakness, to proactive intervention and even preventative care. 2023-05-25 2023-08-14 Not clear
G Sabuncu Gürses, S S Erdem, M T Saça. A QSAR study to predict the survival motor neuron promoter activity of candidate diaminoquinazoline derivatives for the potential treatment of spinal muscular atrophy. SAR and QSAR in environmental research. vol 34. issue 3. 2023-05-01. PMID:37125536. spinal muscular atrophy is a genetic neuromuscular disease that leads to muscle weakness and atrophy and it is characterized by the loss of α-motor neurons in the spinal cord's anterior horn cells. 2023-05-01 2023-08-14 Not clear
Linda-Isabell Schmitt, Christina David, Rebecca Steffen, Stefanie Hezel, Andreas Roos, Ulrike Schara-Schmidt, Christoph Kleinschnitz, Markus Leo, Tim Hagenacke. Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy. Acta neuropathologica. 2023-03-17. PMID:36930296. spinal muscular atrophy (sma) is a progressive neuromuscular disorder caused by a loss of the survival of motor neuron 1 (smn1) gene, resulting in a loss of spinal motor neurons (mns), leading to muscle weakness and wasting. 2023-03-17 2023-08-14 mouse
Kristine S Ojala, Cassandra J Kaufhold, Mykenzie R Davey, Donggyun Yang, Mary Liang, Peter Wipf, Yomna Badawi, Stephen D Merine. Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model. Human molecular genetics. 2023-02-09. PMID:36757138. spinal muscular atrophy (sma) is a monogenic disease that clinically manifests as severe muscle weakness due to neurotransmission defects and motoneuron degeneration. 2023-02-09 2023-08-14 mouse
Cintia Gomez Limia, Megan Baird, Maura Schwartz, Smita Saxena, Kathrin Meyer, Nicolas Wei. Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders. Journal of personalized medicine. vol 12. issue 12. 2022-12-23. PMID:36556200. neuromuscular disorders (nmds) are a group of diseases in which patients show primary progressive muscle weaknesses, including duchenne muscular dystrophy (dmd), pompe disease, and spinal muscular atrophy (sma). 2022-12-23 2023-08-14 Not clear
Kentaro Sahashi, Atsushi Hashizume, Yachiyo Kuwatsuka, Madoka Chinen, Ai Saotome-Nakamura, Masahiko Ando, Masahisa Katsun. The Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA): Protocol for a Longitudinal Observational Study. JMIR research protocols. vol 11. issue 12. 2022-12-15. PMID:36520510. spinal muscular atrophy (sma) is an autosomal recessive genetic neuromuscular disorder with progressive muscle weakness and atrophy, mainly caused by lower motor neuron degeneration resulting from decreased levels of the survival motor neuron protein. 2022-12-15 2023-08-14 human