Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman
Sultan Qaboos University Medical Journal, 2017 Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord.
Roshan Koul +4 more
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Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data [PDF]
, 2017 Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing.
Brouwer, Oebele F. +11 more
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Journal of Pediatric and Neonatal Individualized Medicine, 2016 Selected Lectures of the 12th International Workshop on Neonatology • 10 P PEDIATRICS: NOTES FOR THE FUTURE • Cagliari (Italy) • Cagliari (Italy) • October 19th-22nd, 2016 LECT 1. NEONATAL CONGENITAL HEART DISEASE: WHAT'S NEW? • S.
--- Various Authors
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Motor nerve conduction velocity in spinal muscular atrophy of childhood. [PDF]
Archives of Disease in Childhood, 1976 The ulnar and posterior tibial conduction velocities were measured in 29 children with spinal muscular atrophy, 14 of whom had the servere form of the disease. The ulnar nerve velocity was slow in 12 of the 14 severely affected infants, but normal or fast in 11 of 14 children less severely affected.
A, Moosa, V, Dubowitz
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Spontaneous breathing pattern as respiratory functional outcome in children with spinal muscular atrophy (SMA) [PDF]
, 2016 Introduction: SMA is characterised by progressive motor and respiratory muscle weakness. We aimed to verify if in SMA children 1)each form is characterized by specific ventilatory and thoracoabdominal pattern(VTAp) during quiet breathing(QB); 2)VTAp is ...
Aliverti, A. +5 more
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Population screening for spinal muscular atrophy : a mixed methods study of the views of affected families [PDF]
, 2016 Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them.
Boardman, Felicity K. +2 more
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THE PSYCHOMOTOR THEORY OF HUMAN MIND [PDF]
, 2007 This study presents a new theory to explain the neural origins of human mind. This is the psychomotor theory. The author briefly analyzed the historical development of the mind-brain theories.
TAN, Prof. Dr. Uner
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Segregation analysis of chronic childhood spinal muscular atrophy. [PDF]
Journal of Medical Genetics, 1978 A formal segregation analysis for the disease 'chronic childhood spinal muscular atrophy' is presented. This disease is also known as 'Kugelberg-Welander disease', 'arrested Werdnig-Hoffmann disease', and 'chronic proximal or generalised spinal muscular atrophy'. There were 124 index cases occurring in 115 families.
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Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model [PDF]
, 2010 Increasing survival of motor neuron 2, centromeric (SMN2) exon 7 inclusion to express more full-length SMN protein in motor neurons is a promising approach to treat spinal muscular atrophy (SMA), a genetic neurodegenerative disease.
Hua, Y. +6 more
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The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]
, 1996 A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert) +18 more
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