Dopa-responsive dystonia

Other names: DRD / Segawa’s dystonia / Segawa’s disease / DYT5 dystonia / Progressive hereditary dystonia

Type: Generalised

Dopa-responsive dystonia is a neurological movement disorder characterised by continuous or intermittent muscle contractions which cause abnormal, often painful, repetitive movements generally in the feet and legs. It is a broad term used to describe a rare but highly treatable form of genetic dystonia that typically responds to a medication called levodopa.

In many patients it starts with symptoms in the feet and legs but it may also extend to involve muscles of the arms and torso (trunk). In addition, dopa-responsive dystonia is typically characterised by signs of Parkinsonism that may be relatively subtle. Commonly, the symptoms will fluctuate and worsen as the day progresses. As such, this disorder has sometimes been referred to as ‘progressive hereditary dystonia’.

The most common form of dopa-responsive dystonia is often referred to as DYT5 dystonia.

Dopa-responsive dystonia should be diagnosed and treated by a neurologist specialising in movement disorders.