Dystonias are disorders characterized by muscle spasms and contractions. Dystonia is thought to be neurological in origin, but the condition does not affect people’s intelligence, memory or language ability. If the dystonia is genetic or the cause is unknown, it is termed primary dystonia, while dystonia that occurs due to an underlying disease such as stroke, encephalitis, Parkinson’s disease or head injury, is referred to as secondary dystonia.

Primary dystonia

The pathology behind primary dystonia is generally thought to involve the basal ganglia in the brain. The basal ganglia is made up of a group of cells that influence parts of the brain that are responsible for muscle control.

Several forms of primary dystonia have been linked to genetic mutations and include dopa-responsive dystonia, generalised dystonia and paroxysmal dystonia. The faulty genes are inherited in an autosomal dominant fashion, which means a child born to a parent who carries one of the mutaitons has a 50% chance of inheriting the gene and developing dystonia.

Secondary dystonia

Also known as acquired dystonia, secondary dystonias are usually caused by another condition, some of which are described below.

• Parkinson’s disease, a condition caused by a lack of the neurotransmitter dopamine.
• Huntington’s disease, which is caused by a lack of cholesterol in the brain.
• Multiple sclerosis, a condition caused by damage to the protective myelin sheath that surrounds nervous tissue.
• Wilson’s disease, a genetic condition where abnormal deposits of copper accumulate in bodily tissues.
• Infections such as HIV or encephalitis (brain infection)
• Injury to the brain, head or spine
• Cerebral palsy
• Brain cancer
• Stroke
• Certain poisons such as carbon monoxide