Hyperekplexia

The congenital hyperekplexia (syn. Stiff baby syndrome ) is a rare congenital genetic disorder ( autosomal dominant or recessive trait ), which in neurological symptoms ( tactile and acoustic stimuli are inadequately answered ) manifests itself. In order to prevent sudden infant death syndrome are needed both a prompt diagnosis (including delineation of epilepsy ), as rapid initiation of appropriate treatment. The syndrome was first described in 1958.

Cause

The congenital hyperekplexia is usually autosomal dominant inherited disorder characterized by mutation in the glycine receptor ( GLR ). Both the alpha-subunit ( GLRA1 ), as well as the beta-subunit ( GLRB ) of the receptor is involved. There are many mutational variants, including autosomal recessive forms. As localization in the genome 5q32 -35 and 4q31 -3 have been identified.

Clinical manifestations

Immediately after birth, if it is considered a hypertensive skeletal muscle ( up to rigid, hence the English name Stiff baby syndrome). In addition, there is an increased startle reflex. In addition, it comes with acoustic or tactile stimuli to spasmodic contraction of the muscles, where it can also lead to life-threatening situations with apnea of ​​newborn well.

The symptoms can be claimed with increasing age, such as sudden fright, it may also in adulthood yet (you Stiff ), lead to a corresponding muscle rigidity at the same time retaining consciousness.

Treatment

The treatment is carried out by means of clonazepam. However, towards epilepsy medicines to patients the symptoms may worsen.

Literature and References

• GLRA1
• Pathophysiological mechanisms of dominant and recessive mutations in hyperekplexia GLRA1. , J Neurosci. 2010 Jul 14; 30 (28 ) :9612 - 20th

• Disease in neurology