Throwing her head backwards, going completely rigid and arching her back and screamingGoing rigid, clenching her fists and drawing them up to her chest/under her chin, with her legs rigid and raised in a v sit position with head bowed to chest and jaw open and moaning. Twisting her head extremely to the left (almost looking backwards over her shoulder) and with her tongue going blue/purple protruding from her mouth whist she rasped for breath.
Initially, these (especially the blue tongue ones) were terrifying to watch.
We were sure these episodes were seizures as they look remarkable similar, however EEG's concluded that they were not.
They are believed to be caused by the incorrect functioning of part of the brain that is responsible for movement - the basal ganglia. It is believed that this incorrect functioning arises from the imbalance of neurotransmitters.
Continual abnormal postures and relentless muscle spasms cause the child considerable pain and discomfort.
Dystonia can affect virtually any single part of the body (focal) or several different areas at once (multifocal/generalised)
How are they diagnosed?
In a child with an existing seizure disorder, Dystonia can look very like seizures so the first thing to do is to capture a posture or spasm on an EEG to rule out epileptic activity. After seizures have been ruled out, they are principally diagnosed by appearance, although an MRI scan may prove helpful as it would confirm whether there is any damage to the basal ganglia area of the brain which would be consistent with this condition.
An MRI scan Niamh had taken shortly after these began confirmed atrophy to the Basal Ganglia area of her brain - consistent with her diagnosis of Dystonia.