Paroxystic kinesigenic Dyskinesy

The paroxystic kinesigenic dyskinesy is a Genetic disease characterized by the appearance of plain or bilateral involuntary movement started by a change of position, a fright or movements abrupt. The voluntary movements imply a Dystonie, movements very violent one of projection and torsion of the members and concerning usually only one upper limb (Hémiballisme) and of the choreo-athetosic movements . These movements are sometimes preceded by Will have but without loss of conscience.
The duration of these movements is one second to several minutes and their frequency of 1 per month with 100 by jour.
The family paroxystic kinesigenic dyskinesy begins typically in childhood and is seen especially among boys

Etiology

The gene in question is for the moment unknown but analyzes by study of connection locate gene on the Locus q11.2-q22.1 of the Chromosome 16.

Incidence and prevalence

1 person out of 150.000 is reached by this disease

Description

Diagnosis

The genetic Council

Mode of transmission

The majority of the cases are sporadic but the family paroxystic kinesigenic dyskinesy is transmitted in a dominant way

Sources

Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 128200 * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005]

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