Abstract：
:The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles. Over the last 12 years, the underlying genetic defects for many of the diseases have been identified and insight into pathomechanisms of disease has been gained. At the same time, improved diagnostic techniques have allowed to extend the phenotypic spectrum for many of these devastating conditions, which showed that clinical symptoms and pathological findings are not restricted to skeletal muscles. Childhood limb-girdle muscular dystrophies are systemic diseases that often affect the musculoskeletal, respiratory, and cardiovascular system and that can go along with central nervous system involvement and gastrointestinal symptoms. The systemic nature of the diseases requires adequate management strategies that improve symptoms, longevity, and quality of life of the patients. As we are entering an era of translational research the need for precise molecular diagnoses, a thorough understanding of the natural history of the diseases and guidelines for standardized assessments of the patients become even more relevant. In this review, the best characterized childhood limb-girdle muscular dystrophies are discussed and their management aspects highlighted.
journal_name
Semin Pediatr Neuroljournal_title
Seminars in pediatric neurologyauthors
Straub V,Bushby Kdoi
10.1016/j.spen.2006.06.006subject
Has Abstractpub_date
2006-06-01 00:00:00pages
104-14issue
2eissn
1071-9091issn
1558-0776pii
S1071-9091(06)00096-9journal_volume
13pub_type
杂志文章,评审abstract：:Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. Caused by a microdeletion on chromosome 22, it manifests in a remarkable variety of symptoms in multiple systems. The most frequent anomalies involve palatal function, facial features...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2007.07.005
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abstract：:Biomarkers are central to the translational medicine strategic focus, though strict criteria need to be applied to their designation and utility. They are one of the most promising areas of medical research, but the "biomarker life-cycle" must be understood to avoid false-positive and false-negative results. Molecular...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
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更新日期：2006-03-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
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abstract：:Neonatal neurocritical care is an evolving subsubspecialty whose goal is to implement neuroprotective care strategies, continuous bedside monitoring of neurologic function, and therapies in order to reduce the risk of neurologic injury and improve long-term neurodevelopmental outcomes in neonates who require intensive...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2019.08.010
更新日期：2019-12-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(97)80013-7
更新日期：1997-12-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2017.03.006
更新日期：2018-07-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2018.02.003
更新日期：2018-04-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2010.10.006
更新日期：2010-12-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/s1071-9091(96)80011-8
更新日期：1996-09-01 00:00:00
abstract：:In this review, we discuss the important pathological lesions observed in temporal lobectomies and neocortical resections performed for medically refractory seizures in children. A higher percentage of pediatric cases appear to be "lesional" with computed tomography (CT) and magnetic resonance imaging (MRI) and abnorm...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(05)80034-8
更新日期：1995-09-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2008.05.003
更新日期：2008-09-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2004.01.004
更新日期：2004-03-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1053/spen.2002.35499
更新日期：2002-09-01 00:00:00
abstract：:Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2015.11.001
更新日期：2015-12-01 00:00:00
abstract：:Routine serum antiepileptic (AED) drug levels and laboratory monitoring for drug toxicity have crept into clinical practice. The value of these routines is uncertain. Serum drug levels do not clearly improve seizure control, predict adverse effects, or influence compliance. Routine laboratory testing appears neither s...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：
更新日期：1994-12-01 00:00:00
abstract：:The discipline of childhood movement disorders is an exciting new area of specialization within the field of pediatric neurology. Establishing a formal educational system is an ongoing challenge that should include the standardization of movement definitions, the development of a formal classification system for exist...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2011.05.003
更新日期：2011-06-01 00:00:00
abstract：:Seizures are a common complication of pediatric brain tumors and their treatment. This article reviews the epidemiology, evaluation, and treatment of seizures in children with brain tumors. Seizures in known brain tumor patients may signify tumor progression or recurrence, or treatment-related brain damage, as well as...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2012.02.010
更新日期：2012-03-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2006.09.001
更新日期：2006-12-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2011.05.006
更新日期：2011-06-01 00:00:00
abstract：:The occurrence of seizures in the sleep state is observed in nearly one third of patients. This is caused by an intimate relationship between the physiological state of sleep and the pathological process underlying epileptic seizures. Both sleep and sleep deprivation influence the frequency of epileptiform discharges ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2008.03.007
更新日期：2008-06-01 00:00:00
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journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2014.02.003
更新日期：2014-03-01 00:00:00
abstract：:Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain. Synthesis defects are treatable, therefore an earl...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2016.11.003
更新日期：2016-11-01 00:00:00
abstract：:The cerebral cortex is the area of the brain where higher-order cognitive processing occurs. The 2 hemispheres of the cerebral cortex communicate through one of the largest fiber tracts in the brain, the corpus callosum. Malformation of the corpus callosum in human beings occurs in 1 in 4000 live births, and those aff...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2009.07.003
更新日期：2009-09-01 00:00:00
abstract：:The NeuroDevNet Autism Spectrum Disorder Demonstration Project interfaces at many levels with the network's research themes and priorities. Our interdisciplinary team aims to improve understanding of genetic factors underlying vulnerability to autism spectrum disorders (ASDs) to develop better diagnostic strategies an...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2011.02.003
更新日期：2011-03-01 00:00:00
abstract：:The nature of sleep-related breathing problems varies with age. Ventilatory function may be compromised at the level of the brainstem, the autonomic nerves, or the upper airway musculature. These disorders are state-dependent, being impacted by both rapid eye movement and non-rapid eye movement sleep, and also by the ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(03)00074-3
更新日期：2003-12-01 00:00:00
abstract：:Training in child neurology requires formal training in other aspects of pediatrics. This pediatrics training affords the ability to obtain a developmentally appropriate history and physical examination at all stages of childhood and adolescence and to provide anticipatory guidance to children and families of all deve...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2011.05.007
更新日期：2011-06-01 00:00:00
abstract：:Astrocytes have long been forgotten entities in our quest to understand brain function. Over the last few decades, there has been an exponential increase in our knowledge of central nervous system (CNS) function, and, consequently, astrocytes have emerged as key figures in CNS physiology and disease. Indeed, several p...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2013.10.003
更新日期：2013-12-01 00:00:00
