Hereditary Hyperexplexie

Described for the first time in 1966, the hereditary hyperexplexie is characterized by generalized stiffnesses appearing immediately with the birth and spontaneously disappearing at the first year from life, of a reflex of quiver (reflex of the consistent newborn in a general start of the body with spacing of the arms and inversion of the head behind) caused by a stimulus auditive and followed by one period prolonged of stiffness after the reflex of quiver.

The majority of the children reached have spasms violent one of the members with hyperextension of the head at the time of the percussion of the point of the nose. The other anomalies are abnormal movements of the members during the sleep and the hypnagogic Myoclonie S (transitory state which precedes the moment by drowsiness).

Cases of sudden deaths were reported. The intelligence is preserved.

Changes of five genes are known like persons in charge of this pathology: the changes of the gene GLRA1 are responsible for 80% of the cases. the other genes in question are: SLC6A5, GLRB, GPHN and ARHGEF9.

The transmission is mainly on the mode dominating. The Clonazepam is the most effective treatment to reduce the demonstrations of this disease.

Sources

Marina AJ of Koning-Tijssen, Mark I Rees, Hyperekplexia In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2007 ===Références===

Random links: