Impact of Nusinersen on the Health-Related Quality of Life and Caregiver Burden in Patients with Spinal Muscular Atrophy with Symptom Onset before the Age of 6 Months [PDF]
Annals of Child NeurologyPurpose This study investigated the impact of nusinersen on health-related quality of life (HRQoL), functional performance, and caregiver burden in patients with infantile-onset spinal muscular atrophy (SMA), addressing a growing interest in disease ...
Yun Jeong Lee +5 more
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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
doaj +1 more source
Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]
, 2013 Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
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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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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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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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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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Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]
, 2008 Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
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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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