The mucopolysaccharidoses, also referred to as MPS, are a group of diseases in which a missing enzyme results in complex sugar molecules building up in harmful amounts in the body’s cells and tissues. This results in permanent and progressive damage to the cells of the body. Each of the mucopolysaccharidose diseases are present at birth and result from a particular missing enzyme.
Symptoms and characteristics
The effects of cell damage from mucopolysaccharidoses vary depending on the specific missing enzyme, however symptoms are progressive and can include:
- normal intellect through to severe intellectual impairment
- behavioural difficulties
- hearing impairment through to deafness
- enlarged internal organs
- altered facial appearance such as an enlarged mouth and tongue
- excessive hair growth
- heart disease
- joint stiffness
- respiratory complications
- short stature with disproportionately short trunk
- skeletal anomalies such as abnormal bone size
- sleep apnea
- thickened skin and lips.
For more information on some of these symptoms and characteristics, follow these links:
Workplace solutions and adjustments
Due to the progressive nature of the disease, as well as the potential broad range of both intellectual and physical capabilities, employment related considerations and support for those with mucopolysaccharidoses would need to be determined on a case by case basis and reviewed regularly. Some suggestions to assist in the workplace include:
- modifying workstation set up to suit specific needs and overcome physical barriers
- providing and adjusting specialised seating for specific needs to maximise function and provide optimum support
- consider the use of lifting or mechanical aids such as trolleys to minimise lifting requirements
- if mobilising via wheelchair, ensure wheelchair accessibility to all areas of the workplace including kitchen and bathroom amenities, workspace and other doorways or emergency exits
- installation of ramps for independent building access
- automatic door openers and positioning of security pin pads to allow independent door access
- desk modifications to allow for wheelchair clearance and access to all items on the desk easily
- the use of task boards and memory aids/prompts to assist in task completion
- the use of adaptive technology to overcome vision, hearing or communication impairments.
There are solutions and adjustments for the following job requirements:
References
Medscape 1994-2012, Mucopolysaccharidoses Types I-VII, WebMD, online, viewed 15 March 2012, http://www.emedicine.com/derm/topic710.htm.
Mucopolysaccharide & Related Diseases Society Aust. Ltd, (no date specified), The MPS Diseases, Mucopolysaccharide & Related Diseases Society Aust. Ltd, Sydney, viewed 15 March 2012, http://www.mpssociety.org.au/the_mps_diseases1.htm.
National Institute of Neurological Disorders and Stroke (NINDS) 2011, NINDS Mucopolysaccharidoses Information Page, National Institute of Neurological Disorders and Stroke, Bethesda, viewed 15 March 2011, http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/mucopolysaccharidoses.htm.