Results 1 to 10 of about 121,613 (384)

Spinal muscular atrophy [PDF]

Orphanet Journal of Rare Diseases, 2011
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Estimated incidence is 1 in 6,000 to 1
D'Amico Adele, Mercuri Eugenio, Tiziano Francesco D, Bertini Enrico   +3 more
doaj   +12 more sources

Advances and limitations for the treatment of spinal muscular atrophy

BMC Pediatrics, 2022
Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein.
John W. Day, Kelly Howell, Amy Place, Kimberly Long, Jose Rossello, Nathalie Kertesz, George Nomikos   +6 more
doaj   +2 more sources

Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma) [PDF]

Cureus, 2023
Spinal Muscular Atrophy (SMA) is a genetic disease that causes weakness and wasting in the voluntary muscles of infants and children. SMA has been the leading inherited cause of infant death.
Tolu Ogbonmide, Rajni Rathore, Shahid B Rangrej, Stedrea Hutchinson, Marcia Lewis, Stephenie Ojilere, Victoria Carvalho, Irenaissia Kelly   +7 more
openalex   +2 more sources

Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen

Developmental Medicine & Child Neurology, 2022
To assess the evolution of bulbar function in nusinersen‐treated spinal muscular atrophy type 1 (SMA1).
Harriet Weststrate, Georgia Stimpson, Lily Thomas, Mariacristina Scoto, Emily Johnson, Alexandra Stewart, Francesco Muntoni, Giovanni Baranello, Eleanor Conway, SMA p‐FOIS Working Group*   +9 more
openalex   +2 more sources

Biomarkers in spinal muscular atrophy [PDF]

Frontiers in Neurology
Spinal muscular atrophy is a hereditary disorder leading to severe neuromuscular impairment. With the introduction of disease-modifying therapies in recent years, the role of biomarkers has expanded from aiding diagnosis to monitoring treatment responses,
Liping Yan, Jinping Zhang, Jian Zheng, Hua Hao   +3 more
doaj   +2 more sources

Rehabilitation management for patients with spinal muscular atrophy: a review [PDF]

Orphanet Journal of Rare Diseases
The rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients’ quality of life.
Wei Song, Xiaohua Ke
doaj   +2 more sources

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report [PDF]

BMC Anesthesiology
Background Spinal Muscular Atrophy (SMA) is a rare autosomal recessive genetic disorder characterized by degeneration of motor neurons in the spinal cord, resulting in progressive limb muscle weakness, atrophy, and severe scoliosis.
Zhuangyuan Chen, Xiaowei Chen, Xiyun Liang, Qiang Niu, Yauwai Chan, Xuebing Xu   +5 more
doaj   +2 more sources

Nusinersen versus sham control in later-onset spinal muscular atrophy [PDF]

New England Journal of Medicine, 2018
Connolly, A. M., et al,
core   +3 more sources

Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy

Neural Regeneration Research, 2021
Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein.
Kishore Gollapalli, Jeong-Ki Kim, Umrao R Monani   +2 more
doaj   +1 more source

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

International Journal of Molecular Sciences, 2023
Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891.
H. Nishio, Emma Tabe Eko Niba, Toshio Saito, Kentaro Okamoto, Y. Takeshima, H. Awano   +5 more
semanticscholar   +1 more source