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Juvenile Huntington's Disease (juvenile + huntington's_disease)

Distribution by Scientific Domains
Medical Sciences60%

Selected Abstracts

Book Review: Juvenile Huntington's Disease and Other Trinucleotide Repeat Disorders

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2 2010
Alan Fryer
No abstract is available for this article. [source]

Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat

MOVEMENT DISORDERS, Issue 10 2005
Spiridon Papapetropoulos MD
Abstract We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108-repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis. © 2005 Movement Disorder Society [source]

The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition

CLINICAL GENETICS, Issue 6 2006
Section Editor: Barbara Bowles Biesecker, email: barbarab@mail.nih.gov
There has been a paucity of research into the psychosocial impact of juvenile Huntington's disease (JHD) on the child and the family. The study reported here is part of larger project that aimed to address this and investigate the social and health care needs of those affected by JHD. Ten semistructured interviews with the main caregiver(s) were carried out and were analyzed using the qualitative methodology interpretative phenomenological analysis. The main themes arising from the analysis are reported here: first becoming aware something is wrong; physical symptoms; speech and communication difficulties; behavioral problems; a slow but relentless process. These are discussed in relation to extant literature. We hope the article will be helpful to clinicians working with families where a child is affected by JHD and also contribute to the general literature on understanding symptoms in childhood illness. [source]