Timely diagnosis of Alpha-Mannosidosis is important as it can influence how well the individual does in the long-term as therapies should be initiated as soon as possible.1
Tools & resources
Your doctor can use a number of very simple tests to diagnose Alpha-Mannosidosis, including:
Urine sample2
This will measure oligosaccharide levels in urine. High levels will be suggestive of Alpha-Mannosidosis.
Blood sample2
A small sample of blood is taken to measure the presence of mannosidase enzyme in blood cells. This can be used to confirm a diagnosis.
Genetic testing2
A diagnosis of Alpha-Mannosidosis can also be confirmed through genetic testing, which can detect the mutation in the gene that causes the disorder.
Caring for persons with Alpha-Mannosidosis
Ideally, the individual with Alpha-Mannosidosis will be followed by a team of medical specialists who can help determine the specific needs of each person and help suggest the most appropriate solutions.2 For examples:
Eye problems
Ophthalmologist
Otitis media
Otolaryngologist
Hearing loss
Hearing specialist
Dental alterations
Dentist
Joint
problems
Spinal
deformities
General orthopaedic
problems
Orthopedic specialist
Mental retardation
Psychiatrist or psychologist
Tips for helping those with Alpha-Mannosidosis3
The home environment should be adequately prepared to meet these needs, such as:
The use of ramps to allow wheelchair access;
Fixing any hazards for walking and install non-slip flooring in the bathroom and kitchen;
Increasing the amount of light.
Moreover, individuals will need early educational intervention for development of social skills, speech therapy and special education to maximise learning.
Thus, caring for someone with alpha mannosidosis can be extremely challenging. If you are caring for someone with the disease, always keep in close contact with the specialist who is managing the person, as they can provide specific advice depending on the individual needs.
A diagnosis of Alpha-Mannosidosis can have a considerable emotional impact on patients and caregivers.
Download the key information on Alpha-Mannosidosis here