Dystonia, a chronic neurological disorder, has only recently been recognised as a distinct entity. Rather than being a single disease, it is a syndrome or set of symptoms that cannot be attributed to a single cause.
The common denominator of all dystonia is abnormal muscle rigidity. Generalised dystonia affects most of the body, focal dystonia a specific part; and the condition can be extremely debilitating.
An Irish Times reader has kindly shared his experience of dystonia. "In 1992 my neck went into spasm for no apparent reason. My GP referred me to hospital for an X-ray, which showed nothing physical.
"After two years of complete neck spasm, I was referred to the hospital psychiatric ward for three weeks' observation. I was told that my neck was crooked for psychosomatic reasons.
"After my three-week hospital stint, I was a lot worse than when I went in. I then tried cranial massage, acupuncture, hypnosis, biofeedback, massage, meditation and Alexander technique. None of these had any long-term relief.
"Recently, my GP read about dystonia and suggested I get a second opinion from a neurologist. Within 30 minutes he diagnosed dystonia."
Apart from underlining the importance of having a supportive and up-to-date GP, this story illustrates the confusion that until recently surrounded the diagnosis of dystonia. It used to reside in a no-man's-land between the disciplines of neurology and psychiatry.
Dystonia is the third most common neurological movement disorder after Parkinson's disease and tremor. It is characterised by overactivity of a specific muscle or group of muscles, which causes involuntary movements, sustained muscle contractions and the development of abnormal postures. Dystonia is particularly prevalent among children and young adults.
We now know it is a physical disorder. It is not caused by stress or other psychological problems. It is not fatal, nor does it affect a person's intellect.
The underlying cause of dystonia is not clear, but research is focusing on a number of possibilities:
Abnormality in the basal ganglia, an area deep within the brain whose function is to among nerve cells.
Certain drugs used to treat other ailments may trigger or aggravate dystonia. Some of the older treatments for schizophrenia can induce it, for example.
There appears to be a genetic component in some dystonia that develop in childhood.
One of the commonest forms of dystonia is spasmodic torticollis, the diagnosis that was eventually given to our reader. This affects the neck and shoulders, causing the neck to twist to one side. The particular movement disorder depends on which of the neck muscles are involved.
Is there a treatment for this form of dystonia? Our correspondent has had some relief, following the injection of botulinum toxin. Better known as the fashionable cosmetic treatment for facial lines and creases, Botox causes temporary muscle weakness when injected into the muscles affected by dystonia.
The toxin is derived from Clostridium botulinum, a bacterium that blocks the release of the chemical neurotransmitters responsible for muscle contraction.
The treating doctor may use an investigation called electromyography (EMG)to help identify the Botox is a temporary treatment that wears off with time. Three-to-four-monthly injections are the usual frequency, although the neurologist will try to use a conservative dosing regime to avoid the formation of toxic antibodies. When this occurs, the effectiveness of the treatment is significantly reduced - and sometimes wiped out.
Our correspondent experienced considerable delay in securing an appointment with a neurologist, which highlights the chronic shortage of neurologists in the State. As the Neurological Alliance of Ireland recently pointed out: "All people should have a reasonable expectation that their neurological condition will be efficiently investigated, diagnosed and treated by a relevant specialist". Department of Health and Children, please note.
For further information, support and advice, contact Dystonia Ireland, 33 Larkfield Grove, Harold's Cross, Dublin 6W (telephone 01-4922514 or e-mail dystonia@gofree.indigo.ie)
You can e-mail Dr Muiris Houston, Medical Correspondent, at mhouston@irish-times.ie or leave a message on 01-6707711, ext 8511. He regrets he cannot reply to individual medical problems