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Late Onset Tay-Sachs disease is an inherited condition that affects the nervous system. It can result in muscle weakness and problems with mobility.
Late Onset Tay-Sachs disease is an inherited condition that affects the nervous system. It is caused by a genetic defect that stops an enzyme called hexosaminidase A from working. The enzyme normally breaks down fatty substances in the nervous system. Without the enzyme there is a build-up of fatty substances in the nerve cells and brain, which results in a gradual loss of nervous system function.
There is a form of Tay-Sachs disease that presents at birth with patients surviving 2 to 4 years. Late Onset Tay-Sachs disease tends to appear between the teenage years and mid-30s. Late Onset Tay-Sachs disease is slow to progress and it can be years before it is fully diagnosed. Early signs can include clumsiness and falls, or changes in mood and behaviour.
At present there is no cure for Late Onset Tay-Sachs, but scientists are working on improving their understanding of the disease and ways in which it can be treated.
Liverpool Neuro Physio can offer specialist neurological physiotherapy treatment to help address the physical impairments experienced as a result of Late Onset Tay Sachs Disease. Physiotherapy treatment aims to reduce the impact this disease can have on your life in order to maximise your functional independence for as long as possible.
The effects of Late Onset Tay-Sachs disease are variable, even between different affected family members. Patients can suffer with:
At Liverpool Neuro Physio we understand that as a result of these symptoms people can struggle with basic mobility and may have difficulty with tasks such as walking, standing from a chair, going up and down stairs, or they may suffer from frequent falls. At Liverpool Neuro Physio we aim to address these issues, to try and improve or maintain your functional ability for as long as possible.
Physiotherapy is important for people with Late Onset Tay-Sachs disease to address any muscular or balance problems. Without working to maintain or improve muscle strength and balance there is a risk of muscles becoming stiff and joints losing more mobility, which further affects function and balance leading to increased risk of falls. At Liverpool Neuro Physio we know it is important to minimise risk of falls in order to prevent injury that may further decrease your mobility.
With Liverpool Neuro Physio you would have an in-depth assessment from one of our specialist physiotherapists who would look at all aspects of your muscle strength, balance and co-ordination. Your physiotherapist would then provide an individual exercise programme to address the areas that most affect you.
Exercise programmes may include:
With physiotherapy you can build and maintain your muscle strength and flexibility, improve your balance to minimise risk of falling and explore ways to maximise your mobility so you can have functional independence for as long as possible.