Movement Disorders

[livingwith]

I’m a 48 yr old woman diagnosed Feb 2007 with Hyperekplexia. Increased allergies past 12 months, body totally intolerant of MSG products, (body thrashing, tremors stiffness, muscle cramps n pain). Now avoiding msg, body very uncomfortable daily with 1-3hr intervals between seizures # Madopar 150mg x 7-8 times daily / 2.5mg Cabaser daily / Rivotril 1- 2mg nocte / Brufen - painful body cramps.
Seeking ideas. No-one knows what to do with me. Stiffness and body jerking increasing....Read the full article

[hyperekplexic]

I am a Biology Professor with a background in neurophysiology. I can comment on the genetic origins of hyperekplexia.

Hyperekplexia, also known as Startle Disease, often involved the mutation of the alpha1 subunit of the glycine neurotransmitter receptor. The glycine receptor is highly expressed in inhibitory neurons within the spinal cord and brainstem. A defective glycine receptor leads to a loss of "inhibitory tone" in the spinal motor reflex pathways. Stimuli, like sound or touch, activate abnormally large motor reflexes without this inhibitory tone.

Hyperekplexia can also arise from mutations in the beta subunit of the glycine receptor, mutation in the glycine transporter, or a mutation in a protein that anchors the glycine receptor to its correct location in the post-synaptic membrane.

The best place to locate current information about the genetic of Hyperekplexia is the OMIN (Online Medelian Inheritance of Man) website. Genetic testing for the most common form of hyperekplexia is done by GeneTests. They have an excellent review of hyperekplexia in their Laboratory Directory portion of their website http://www.genetests.org/

The disease can be readily treated with a GABA agonist called Clonazepam.