Ataxia is an umbrella term for a group of disorders that affect co-ordination, balance and speech. It describes the lack of muscle coordination when a voluntary movement is attempted. It may affect any motion that requires muscles to work together to perform a function – from walking, to picking up an object, to swallowing. Ataxia is commonly a symptom of an underlying medical problem – such as a brain tumour or MS - but some ataxias are either inherited or ‘idiopathic’, with no clear cause.
There are different types of ataxia and they fall into three main categories:
Spinocerebellar ataxia (SCA) is a term referring to a group of hereditary ataxias that are characterised by degenerative changes in the part of the brain related to the control of movement (cerebellum) and sometimes the spinal cord.
There are a number of different types of SCA, and these are classified according to the particular mutated gene that underlies that condition. These different types may have different signs and symptoms, but all are characterised by problems with movement that tend to get worse over time.
Affected people may experience the following:
Depending on the type of SCA, signs and symptoms can onset anytime from childhood to late adulthood.
There is no cure for SCA. Some symptoms can be treated with medicine and therapy, and the best options will depend on the particular signs and symptoms experienced.
For most people, symptoms get progressively worse, severely affecting their ability to walk and talk, and to live independently.
Friedreich's ataxia is the most common type of hereditary ataxia. It is thought to affect at least one in every 50,000 people.
Symptoms usually develop before the age of 25 years. As well as the problems with co-ordination, movement and balance seen in other forms of ataxia, symptoms of Friedreich's ataxia can include:
The symptoms of Friedreich's ataxia usually get gradually worse over time. People with the condition tend to have a shorter-than-average life expectancy.
Ataxia telangiectasia (AT) is a rarer type of hereditary ataxia. Symptoms usually begin in early childhood.
The name itself comes from the characteristic small spider-like clusters of red blood vessels seen in the corner of the eyes and on the cheeks, known as telangiectasias.
Other signs and symptoms of AT include:
The symptoms of AT tend to get worse quite quickly. People with the condition generally don't live beyond their mid-twenties.
We are funding research by Professor Henry Houlden at UCL Institute of Neurology, looking to identify the genes underlying spinocerebellar ataxia: