Title Juvenile Huntington's disease : (and other trinucleotide repeat disorders) / edited by Oliver W.J. Quarrell [and others]

Published Oxford ; New York : Oxford University Press, 2009

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Description 1 online resource (xvi, 205 pages) : illustrations Contents Dedication; Preface; Foreword; Contents; List of contributors; 1 Family experiences: Part I, Diagnosis and early stages; 2 Family experiences: Part II, Later stages; 3 The history of juvenile Huntington's disease; 4 The clinical phenotype of juvenile Huntington's disease; 5 Juvenile Huntington's disease: neuropathology; 6 Molecular mechanisms in juvenile Huntington's disease; 7 Juvenile Huntington's disease and mouse models of Huntington's disease 8 Clinical features of early and juvenile onset in polyglutamine disorders other than Huntington's disease: autosomal dominant cerebellar ataxias and dentatorubral pallidoluysian atrophy9 The diagnostic challenge; 10 The treatment of juvenile Huntington's disease; 11 Psychosocial issues surrounding juvenile Huntington's disease; 12 Challenges in assessment; Appendices: Proposed scales for juvenile Huntington's disease; 1 JHD total functional capacity; 2 JHD functional assessment; 3 JHD motor assessment; Index; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; Q; R; S; T; U; V; W Summary Huntington's disease (HD) is an inherited progressive neurodegenerative disorder. Although onset of Huntington's Disease usually occurs in adulthood, the age of onset of the condition is extremely variable with approximately 5-10% of cases having an onset of less than 20 years, or Juvenile Huntington's Disease (JHD). While JHD shares many of the clinical features of adult HD (e.g., chorea and personality disorders), patients with JHD often experience additional problems includingseizures, dystonia and Parkinsonism. Diagnosis in patients with JHD is often delayed because of the failure of clini Bibliography Includes bibliographical references and index Notes English Print version record Subject Huntington's disease. Genetic disorders in children. Trinucleotide repeats. Children. Adolescent Child Huntington Disease Trinucleotide Repeat Expansion children (people by age group) HEALTH & FITNESS -- Children's Health. MEDICAL -- Pediatrics. Children Genetic disorders in children Huntington's disease Trinucleotide repeats Form Electronic book Author Quarrell, Oliver ISBN 9780191575280 0191575283 1283582198 9781283582193 0191753211 9780191753213 9786613894649 6613894648

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