Results 311 to 320 of about 113,624 (330)

Bone and Spinal Muscular Atrophy

Bone, 2015
Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease, leading to progressive denervation atrophy in the involved skeletal muscles. Bone status has been poorly studied. We assessed bone metabolism, bone mineral density (BMD) and fractures in 30 children (age range 15-171 months) affected by SMA types 2 and 3.
Silvia Vai, Maria Luisa Bianchi, Isabella Moroni, Chiara Mastella, Francesca Broggi, Lucia Morandi, Maria Teresa Arnoldi, Chiara Bussolino, Giovanni Baranello   +8 more
openaire   +2 more sources

Spinal Surgery in Spinal Muscular Atrophy

Journal of Pediatric Orthopaedics, 1985
Fifteen patients with surgical treatment of spinal muscular atrophy were reviewed. The curve pattern was thoracic in 3, thoracolumbar in 11, and double thoracic and thoracolumbar in 1. Follow-up averaged 31 months. Eleven patients underwent posterior spinal fusion with Harrington instrumentation, with segmental wiring in four, and two had Luque ...
John E. Lonstein, David S. Bradford, Youssef H. Daher, Robert B. Winter   +3 more
openaire   +3 more sources

Spinal Muscular Atrophy in the Neonate

Journal of Obstetric, Gynecologic & Neonatal Nursing, 2004
Spinal muscular atrophy (SMA) type I is an autosomal recessive disorder characterized by loss of lower motor neurons in the spinal cord. This severe hereditary neurodegenerative disorder is an important cause of morbidity in the neonate and the leading hereditary cause of infant mortality.
Kenneth H. Fischbeck, Mindy B. Tinkle, Jennifer A. Markowitz   +2 more
openaire   +3 more sources

Risdiplam: A Review in Spinal Muscular Atrophy

CNS Drugs, 2022
J. Paik
semanticscholar   +1 more source

Spinal muscular atrophy

International Journal of Obstetric Anesthesia, 2003
Meganne E Leach, Thomas W. Prior, Erika Finanger   +2 more
openaire   +5 more sources

Spinal muscular atrophy

1996
Classification of the varying types of spinal muscular atrophy is somewhat confused as there are a number of different types. Werdnig Hoffman disease (infantile type or type 1) and Kugelberg—Welander (juvenile type or type 3) are the two most common types seen in childhood. (Type 2 is intermediate in severity between the two.)
openaire   +2 more sources

Spinal and bulbar muscular atrophy

2018
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. The disease is caused by the expansion of a CAG/glutamine tract in the amino-terminus of the androgen receptor.
openaire   +3 more sources

CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES

The Lancet, 1980
Clinical heterogeneity within the spinal muscular atrophies (SMA) has long been a source of confusion for questions of prognosis and genetic counselling. Comprehensive clinical and genetic analyses of 240 consecutive index cases from two English centres (The English SMA Study) have enabled some nosological questions to be resolved.
openaire   +3 more sources

Spinal muscular atrophy — insights and challenges in the treatment era

Nature Reviews Neurology, 2020
E. Mercuri, M. Pera, M. Scoto, R. Finkel, F. Muntoni   +4 more
semanticscholar   +1 more source

Spinal Muscular Atrophy: In the Challenge Lies a Solution

Trends in Neurosciences, 2021
B. Wirth
semanticscholar   +1 more source