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The genetics of spinal muscular atrophies
Current Opinion in Neurology, 2010This article reviews clinical, genetic, and therapeutic advances in spinal muscular atrophies (SMAs), inherited disorders characterized by motor neuron loss and muscle weakness.There has been progress in defining the clinical and genetic features of at least 16 distinct forms of SMA.
Claribel D, Wee +2 more
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Hypogkycaemia in spinal muscular atrophy
The Lancet, 1995Repeated episodes of hypoglycaemia were observed in two girls with spinal muscular atrophy. During a 12 h fast blood glucose fell to 3.4 and 2.7 mmol/L, respectively. One girl developed hypoglycaemia and ketonuria. Reduced gluconeogenesis was probably the cause of hypoglycaemia in these patients who had a muscle mass of about 10% of bodyweight (normal ...
A K, Bruce +3 more
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Seminars in Neurology, 1998
The history of the spinal muscular atrophies (SMA) began in the 1890s with Guido Werdnig and Johann Hoffmann. Together, their papers present a rather complete picture of the clinical and pathologic aspects of infantile SMA: onset during the first year of life, occurrence in siblings with normal parents, progressive floppiness and weakness, hand tremor,
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The history of the spinal muscular atrophies (SMA) began in the 1890s with Guido Werdnig and Johann Hoffmann. Together, their papers present a rather complete picture of the clinical and pathologic aspects of infantile SMA: onset during the first year of life, occurrence in siblings with normal parents, progressive floppiness and weakness, hand tremor,
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Current Opinion in Neurology, 1997
Proximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism.
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Proximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism.
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Bone and Spinal Muscular Atrophy
Bone, 2015Spinal 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 +8 more
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Progressive Muscular Atrophy in an Infant
The American Journal of Nursing, 1963D ON IS A TWO-MONTH-OLD boy with the infantile form of progressive muscular atrophy who was admitted to the pediatric service of a U.S. Air Force Hospital in England. In infants the condition is known as Werdnig-Hoffmann disease. This is primarily a disease of the anterior horn cells of the spinal cord, resulting in degeneration of the peripheral motor
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Treatment of spinal muscular atrophy
Current Opinion in PediatricsPurpose of review The aim of the review was to provide an overview of safety and efficacy of the available treatments including information from both clinical trials and real-world data. Additional information form ongoing studies using other approaches than increasing SMN protein are also reported.
Pera M. C., Mercuri E.
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Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
The Application of Clinical Genetics, 2021Thomas W Prior
exaly