Clinical Review

The patient's journey: the progressive ataxias

BMJ 2005; 331 doi: http://dx.doi.org/10.1136/bmj.331.7523.1007 (Published 27 October 2005) Cite this as: BMJ 2005;331:1007
  1. Hillary Box, editor of The Ataxian1,
  2. Harriet Bonney, patient with ataxia2,
  3. Julie Greenfield, research projects manager (jgreenfield@ataxia.org.uk)1
  1. 1 Ataxia UK, London SW9 6EJ
  2. 2 Dykebar Hospital, Paisley, Scotland PA2 7DE
  1. Correspondence to: Julie Greenfield
  • Accepted 20 September 2005

Introduction

There are many different kinds of progressive ataxia. Although early symptoms tend to be similar, there is no “typical” patient. The speed at which the condition progresses varies between different types of ataxia and between individuals. The age when symptoms start also varies.

Overview of the progressive ataxias

Progressive ataxia describes a group of uncommon neurological disorders, characterised by problems with balance and coordination. Many general practitioners never come across these conditions during their working lives and are most familiar with ataxia due to cerebral palsy, multiple sclerosis, or stroke. The types of ataxia discussed here are chronic conditions that progress slowly and often result in people losing their ability to walk. Another common symptom is slurring of speech. Depending on the type of ataxia and its severity, many other symptoms can occur (box 1).

Many of the progressive ataxias are inherited conditions. The most common one in the United Kingdom is Friedreich's ataxia, which is inherited recessively, often coming into a family out of the blue when two carrier parents have a child who develops ataxia symptoms. Average age of onset is 15 years, but symptoms can start at an age as early as 2 years. Although rarer, in some people the condition is diagnosed much later in life (in their 40s and older). In general, the older age of onset, the less severe the symptoms.

In addition, there are many dominantly inherited cerebellar ataxias. To date 25 subtypes have been identified, known as spinocerebellar ataxia type 1, 2, 3, etc. Genetic testing is available for around 40% of these in some UK centres. Many of these dominantly inherited cerebellar ataxias are of later onset. Patients have often already had children before their own inherited condition is diagnosed. Tests are not available for all progressive cerebellar ataxias, and many people are therefore given a …

Sign in

Subscribe