Having a child with a neurodisability means that you have to learn a whole new language.
In this section we will do our best to explain some of the terminology.
We are building this steadily so check back soon.
Dystonia is the name for uncontrolled and sometimes painful muscle movements (spasms). It is a common feature of FOXG1 and often unrecognised. It is sometimes confused with seizures so it is helpful to have a Neurologist who has experience of movement disorders as well as epilepsies.
Myoclonic means muscle jerk. They can occur as a result of epilepsy – myoclonic epilepsy OR they can just be jerks and twitches common in FOXG1 Syndrome. They often occur as people fall asleep.
Read more about Myoclonic epilepsy here www.epilepsysociety.org.uk
Also commonly described as a fit. Repeated seizures are described as epilepsy.
A missense mutation is when the change in a gene of a single base pair causes the substitution of a different amino acid in the resulting protein. This amino acid substitution may have no effect, or it may render the protein nonfunctional.