Diagnosis of Dystonia

Diagnosing Dystonia

There is no single test to confirm the diagnosis of dystonia. To avoid misdiagnosis it is important that the G.P. refers the patient with dystonia to a neurologist specialising in movement disorders to observe symptoms of dystonia and obtain a detailed patient and family history and do a thorough clinical evaluation. In order to correctly diagnose dystonia, doctors must be able to recognise the physical signs and be familiar with the symptoms. In certain instances, tests may be ordered to rule out other conditions or disorders. The kind of specialist who typically has the training to diagnose and treat dystonia is a movement disorder neurologist, an ophthalmologist to treat Blepharospasm and an ENT specialist (ear, nose and throat) should be consulted to treat spasmodic dysphonia.

The dystonia diagnostic process may include:

• Patient history
• Family history
• Laboratory studies such as blood and urine tests, and analysis of cerebrospinal fluid
• Electrical recording techniques, such as electromyography (EMG) or electroencephalography (EEG)
• Genetic testing for specific forms of dystonia
• Other tests and screenings intended to rule out other conditions or disorders