What is a channelopathy?
A channelopathy is a disorder that occurs when a person's ion channels do not work properly.
What are ion channels?
- An ion is a molecule in our body that helps conduct messages. For example a chloride ion or sodium ion.
- In muscle these ions go in and out of muscle cells and play an important role in activation, contraction and relaxation of the muscle.
- An ion channel is the path that these ions use to move in and out of the muscle cell
What happens in muscle channelopathies?
- In muscle channelopathies, the ion channels in a person's muscle do not work as they should and the movement of the ions either in or out of the channel is affected.
- These channels do not work as they should is due to a ‘mistake’ in the gene that encodes that channel.
- The mistake in the gene can either stop the channel from working properly or stop the channel from being made correctly.
- This leads to the symptoms we see in the muscle channelopathies.
- Depending on which ion channel is not working properly it causes different diseases.
- The commonest muscle channelopathies that we see are:
Please click on the links to learn more about each of these conditions.
