Results 11 to 20 of about 37,922 (217)

Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report

open access: yesJournal of Rehabilitation Medicine - Clinical Communications, 2022
Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative ...
Vincent Shieh   +7 more
doaj   +1 more source

Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects

open access: yesНервно-мышечные болезни, 2022
This study presents the structure and population data of spinal muscular atrophy 5q in the Republic of North Ossetia – Alania. The number of newborns for the period 2000–2020 was 195 954, and the prevalence of spinal muscular atrophy 5q among newborns ...
I. S. Tebieva   +4 more
doaj   +1 more source

Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1 [PDF]

open access: yesKosin Medical Journal, 2019
Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis ...
Min-Jung Cho
doaj   +1 more source

Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy

open access: yesAnnals of Clinical and Translational Neurology, 2022
Objective Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions of fatigue need to be investigated.
Camilla Binz   +20 more
doaj   +1 more source

Spinal muscular atrophy

open access: yesOrphanet 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   +3 more
doaj   +1 more source

Spinal Muscular Atrophy

open access: yesPediatric Neurology Briefs, 1990
Juvenile chronic segmental spinal muscular atrophy of Hirayama is described in two adult identical twins from the Department of Neurology, University of Vermont College of Medicine, Burlington, VT.
J Gordon Millichap
doaj   +1 more source

Castration‐resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy

open access: yesIJU Case Reports, 2022
Introduction We report a prostate cancer case diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy which is a X‐linked recessive, lower motor neuron disease.
Atsuhi Yanase   +9 more
doaj   +1 more source

The social-economic burden of spinal muscular atrophy in Russia

open access: yesФармакоэкономика, 2021
Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
A. S. Kolbin   +7 more
doaj   +1 more source

The efficacy and safety of nusinersen within the expanded access program in Russia

open access: yesНервно-мышечные болезни, 2020
Introduction. Spinal muscular atrophy is a severe neuromuscular disease characterized by rapid progression of muscle weakness and early death. Pathogenetic therapy with nusinersen can significantly change the course of the disease and enable the patient ...
S. B. Artemieva   +12 more
doaj   +1 more source

Rehabilitation in spinal muscular atrophy

open access: yesMedycyna Ogólna i Nauki o Zdrowiu, 2021
Introduction and objective Spinal Muscular Atrophy (SMA) is a disease of the nervous system caused by the degeneration of motor neurons in the spinal cord. The disease is caused by a homozygous deletion of the motor neuron survival gene (SMN1),
Joanna Iłżecka
doaj   +1 more source

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