What is hereditary hyperekplexia?
Hereditary hyperekplexia is a rare genetic neurological condition that causes jerky movement, exaggerated startle reactions and muscle rigidity.
These reactions can be triggered by a variety of stimuli, including unexpected sounds, lights, or movements.
Some people with hyperekplexia are diagnosed as babies, while others do not receive a diagnosis until adulthood.
There is no cure for this condition, however there are treatments available.
What is the cause of hyperekplexia?
Hyperekplexia is genetic, meaning it is caused by a mutation to a certain gene or genes. In the case of hyperekplexia, multiple genes are found to be mutated.
This means that people with a family history of the condition may be at an increased risk.
If you or someone you know is experiencing symptoms resembling hyperekplexia, it is recommended to consult with a doctor for a proper diagnosis – via genetic blood testing – and appropriate management.
What are the symptoms of hyperekplexia?
Hyperekplexia manifests as a highly diverse condition, with the severity varying across the different gene mutations.
The symptoms of hyperekplexia can include:
- Extreme muscle rigidity
- Jerking movements
- Extreme muscle tension and stiffness
- Exaggerated startle reactions
- Unstable walking and uneven gait
- Arching of the head and neck
- Falling without loss of consciousness
- Inability to control movements in the body
- Cognitive difficulties such as developmental delays and memory problems
- Apnoea (stopping breathing)
