What are the symptoms? Expand Symptoms of generalised dystonia include: muscle spasms in the body twisted postures of the limbs or torso abnormal fixed postures of the limbs or torso rapid jerking movements unusual walking with bending and twisting of the torso tremor pain Stress and anxiety are known to exacerbate the symptoms.
Who does it affect? Expand It is known as early-onset as it most often appears in late childhood / early teens. There is 30% chance of developing generalised dystonia if you have inherited the DYT1 gene. If you reach the age of 30 without developing symptoms, there is a good chance they will never develop.
What are the causes? Expand When generalised dystonia is inherited, the condition is caused by mutations in a specific gene. The gene abnormality causes a problem with the brain’s production of the chemical dopamine. Generalised dystonia is sometimes caused by a fault in the DYT1 gene. There are a number of other genes which cause primary early-onset generalised dystonia including the DYT5 gene which causes a rare type of generalised dystonia highly responsive to treatment by dopamine called dopa-responsive dystonia. If no genetic cause can be identified, the physician will explore if the dystonia is ‘acquired’. This may involve a MRI scan of the brain and testing for other rare conditions such as: Wilson’s disease - a treatable genetic condition in which the body does not process copper properly or; Neuronal brain iron accumulation syndrome (NBIA) – a genetic degenerative condition in which iron is deposited in the basal ganglia In idiopathic generalised dystonia there is no detectable abnormality on any brain scans or investigations so it is uncertain why the dystonia has appeared.
What are the common treatments? Expand Botulinum toxin injections Oral medication Deep brain stimulation Physiotherapy
How will it affect my life? Expand You may need to find ways to adapt and might have to learn new ways to complete everyday tasks. However, it is possible to live well with the condition and Dystonia UK is here to support you through all stages including initial onset, diagnosis, finding treatment and beyond.