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Historique, symptômes, épidémiologie, moyens diagnostiques, traitement médical et chirurgical, rééducation, adaptation à la vie de tous les jours, rôle des aidants... Le docteur Chantal Hausser-Hauw passe en revue, de façon simple et claire, les différentes facettes de la maladie de Parkinson, exposant les hypothèses qui permettent d'en expliquer l'origine, en particulier le rôle capital de l'alpha-synucléine. Quelles sont les perspectives de traitement et de prévention ? Quelles autres voies, notamment la thérapie par la lumière ou la thérapie génique, la recherche clinique et fondamentale innovante ouvre-t-elle ? Autant de questions auxquelles les proches et les malades trouveront enfin des réponses précises, à jour des dernières avancées scientifiques.

Parkinson's disease --- Maladie de Parkinson --- Neuromuscular disease

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neurology --- neuromuscular pathology --- Neurology --- Neuromuscular diseases --- Neurology. --- Neuromuscular diseases. --- Neuromuscular Diseases. --- Medicine --- Nervous system --- Neuropsychiatry --- Neuromotor disorders --- Neuromuscular disorders --- Muscles --- Cramp-Fasciculation Syndrome --- Fasciculation-Cramp Syndrome, Benign --- Foley-Denny-Brown Syndrome --- Oppenheim's Disease --- Amyotonia Congenita --- Oppenheim Disease --- Benign Fasciculation-Cramp Syndrome --- Benign Fasciculation-Cramp Syndromes --- Cramp Fasciculation Syndrome --- Cramp-Fasciculation Syndromes --- Fasciculation Cramp Syndrome, Benign --- Fasciculation-Cramp Syndromes, Benign --- Foley Denny Brown Syndrome --- Neuromuscular Disease --- Oppenheims Disease --- Syndrome, Cramp-Fasciculation --- Syndrome, Foley-Denny-Brown --- Syndromes, Cramp-Fasciculation --- Diseases --- Neuropathology

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"About 85% of spine deformities (scoliosis, kyphosis, lordosis) are idiopathic, but some forms are caused by severe neuromuscular disorder such as muscular dystrophy, cerebral palsy, Friedreich's ataxia, and spinal cord tumors and lesions. These are more difficult conditions, since curve progression is much greater than in idiopathic conditions and bracing does not usually prevent progression of the spinal curvature. Smaller curvatures in nonambulatory patients can sometimes be treated by wheelchair modifications, but most patients will undergo surgery. These surgeries are complex because of the severity of the condition itself and because of the various other medical conditions affecting these patients. There is currently no book on the topic, and chapters in spine deformity books give the topic scant coverage. Samdani et al are the world's leader in this field, and they will present the definitive book on the topic, featuring foundational chapters, coverage of the specific neuromuscular disorders, surgical techniques, and postop considerations and complications, and the will be accompanied by surgical videos. The Authors are members of the prestigious Harms Study Group, a worldwide association of spine surgeons performing multi-center research studies on scoliosis"--Provided by publisher.

Spine --- Neuromuscular diseases --- Spine. --- Surgery. --- Neuromuscular Diseases. --- Neuromotor disorders --- Neuromuscular disorders --- Muscles --- Nervous system --- Cramp-Fasciculation Syndrome --- Fasciculation-Cramp Syndrome, Benign --- Foley-Denny-Brown Syndrome --- Oppenheim's Disease --- Amyotonia Congenita --- Oppenheim Disease --- Benign Fasciculation-Cramp Syndrome --- Benign Fasciculation-Cramp Syndromes --- Cramp Fasciculation Syndrome --- Cramp-Fasciculation Syndromes --- Fasciculation Cramp Syndrome, Benign --- Fasciculation-Cramp Syndromes, Benign --- Foley Denny Brown Syndrome --- Neuromuscular Disease --- Oppenheims Disease --- Syndrome, Cramp-Fasciculation --- Syndrome, Foley-Denny-Brown --- Syndromes, Cramp-Fasciculation --- Vertebra --- Spinal Column --- Vertebrae --- Vertebral Column --- Column, Spinal --- Column, Vertebral --- Columns, Spinal --- Columns, Vertebral --- Spinal Columns --- Vertebral Columns --- Abnormalities --- Complications. --- Diseases --- Spinal Curvatures --- Neuromuscular Diseases --- Orthopedic Procedures --- Perioperative Care. --- Child. --- surgery. --- complications. --- methods. --- Children --- Minors --- Care, Perioperative

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Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.

retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader–Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- n/a --- Prader-Willi syndrome

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Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.

Medicine --- retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader-Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader-Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV