Tay Sachs disease is an inherited genetic disorder resulting from mutations of a gene known as the Hex-A gene, which regulates production of the “Hexosaminidase A” enzyme. Deficiency in production of this enzyme leads to an excessive accumulation of certain fats in the brain and nerve cells. This accumulation, in turn leads to progressive dysfunction and damage of the central nervous system.
Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the symptoms and when they first appear. Most people with Tay-Sachs have the infantile form. Late Onset Tay-Sachs disease, which affects adults may occur anytime from adolescence through to mid thirties and is extremely rare. However, it is not uncommon for affected people to go many years before being diagnosed.
Symptoms and characteristics:
The symptoms of late onset Tay-Sachs disease typically present initially in adolescence and include:
- lack of co-ordination
- muscle cramps and twitching
- slurred speech
- trunk muscle weakness.
Not all symptoms are present in every person with the disease, with the exception of trunk and proximal muscle weakness. Symptoms of bipolar depression and episodes of psychosis may also be present with late onset Tay-Sachs disease.
For more information on some of these symptoms and characteristics, follow these links:
Workplace adjustments and solutions:
People with late onset Tay Sachs disease may require some adjustments in the workplace. An individual workplace assessment is recommended to determine specific needs to overcome barriers within the workplace. Assessment may recommend changes to work tasks and the environment, such as:
- use of adaptive technology or equipment to assist in overcoming barriers, increasing productivity and independence
- ensuring physical accessibility to all areas of the workplace including kitchen and bathroom amenities, workspace and other doorways or emergency exits
- set up of kitchen amenities, office or workplace supplies, equipment and furniture which allows for independent access and use
- workstation and ergonomic chair or stool adjustments specific to individual needs
- build in time for breaks at work to avoid fatigue
- modifying tasks or method of work to accommodate individual strengths (Brain Foundation 2003; National Organisation for Rare Disorders 2002; National Tay-Sachs & Allied Diseases Association Inc. 2007).
There are solutions and adjustments for the following job requirements:
References:
Brain Foundation 2003, Tay-Sachs Disease, Brain Foundation, Crows Nest, viewed 6 March 2007, http://www.brainaustralia.org.au/AZ_of_Brain_Disorders/taysachs_disease
National Organisation for Rare Disorders 2002, Tay Sachs Disease, National Organisation for Rare Disorders, Danbury, viewed 6 March 2007, http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tay%20Sachs%20Disease
National Tay-Sachs & Allied Diseases Association Inc. 2007, National Tay-Sachs & Allied Diseases Association Inc., Boston, viewed 7 March 2007, http://www.ntsad.org/