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Journal of Inherited Metabolic Disease, 1999
AbstractSpinal muscular atrophy is a common cause of disability in childhood and is characterized by weakness and wasting of voluntary muscle. It is frequently fatal. The gene for this disorder has been identified as the SMN gene and is part of a highly complex duplicated region of chromosome 5 that is subject to a high rate of gene deletion and gene ...
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AbstractSpinal muscular atrophy is a common cause of disability in childhood and is characterized by weakness and wasting of voluntary muscle. It is frequently fatal. The gene for this disorder has been identified as the SMN gene and is part of a highly complex duplicated region of chromosome 5 that is subject to a high rate of gene deletion and gene ...
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Pregnancy and spinal muscular atrophy
Journal of Neurology, 1992We investigated the course and outcome of pregnancy and its influence on muscle weakness in 12 females with proximal spinal muscular atrophy (SMA) who delivered a total of 17 infants when aged 18-32 years. In 4 females the SMA clearly followed an autosomal recessive mode of inheritance.
Sabine Rudnik-Schöneborn +3 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 ...
J. Kondrup +3 more
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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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Spinal Surgery in Spinal Muscular Atrophy
Journal of Pediatric Orthopaedics, 1985Fifteen 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 +3 more
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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.)
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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.)
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Spinal and bulbar muscular atrophy
2018Spinal 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.
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CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES
The Lancet, 1980Clinical 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.
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Oncologic emergencies and urgencies: A comprehensive review
Ca-A Cancer Journal for Clinicians, 2022David E Gerber, Jason J Bischof
exaly