GAUCHERS DISEASE
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Gauchers disease is a genetically inherited, enzyme deficiency disorder. Symptoms range from mild to severe and can appear at any time, from infancy to old age. They may include anaemia, fatigue, easy bruising and a tendency to bleed. An enlarged spleen and liver with a protruding stomach may also occur as well as bone pain, demineralisation and fractures.
The most common form of Gauchers disease (Type 1) affects 1 in 100,000 of the general population but 1 in 850 of Jewish (Ashkenazi) descent, although it is estimated that not all those who inherit the mutated genes will show symptoms.
In the rare Neuronopathic (Types 2 and 3) Gauchers disease, neurological symptoms include an eye movement disorder and possibly ataxia (unsteadiness), fits, loss of skills and a central auditory processing disorder. Early death may occur in the most severe forms of the disease.
THE AIMS OF THE GAUCHERS ASSOCIATION
1. Provide information about Gauchers disease, an inherited, enzyme deficiency, disorder causing blood and bone complications; and keep families and medical or specialist advisers up to date with latest developments.
2. Encourage the availability of treatment including enzyme replacement therapy.
3. Keep families in touch for support.
4. Actively encourage medical research.
SERVICES
Conference every second year. Occasional talks and meetings. Six monthly Newsletter. Information pack.
GEOGRAPHICAL AREA SERVED
UK and Ireland but worldwide if requested.
This information has been reproduced by kind permission of Gauchers
Association.