Alpha mannosidosis type 2
Other Names for this Disease
- Alpha-mannosidosis adult-onset form
Your QuestionHow severe is it? Does it stabilize? Are there factors which exacerbate it? Are there treatments to slow or stop progression? What are signs and symptoms of end stage disease?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is alpha mannosidosis type 2?
- What are the signs and symptoms of alpha mannosidosis type 2?
- Are there factors that can worsen symptoms of alpha mannosidosis type 2?
- How might alpha mannosidosis type 2 be treated?
- What is the typical long-term outlook for people with alpha mannosidosis type 2?
- How can I find a genetics professional in my area?
More common signs and symptoms of alpha mannosidosis type 2 include:
Developmental delays (e.g., motor and speech)
Weakened immune system
Cerebellar disorders (e.g., ataxia)
Occasional psychiatric symptoms (e.g., depression, anxiety, or hallucinations)
Enlarged liver and spleen (with normal function)
People with alpha-mannosidosis type 2 often have distinct facial features, including large head size, large forehead, low hair line, rounded eyebrows, large ears, wide spaced teeth, overgrown gums, large tongue, protruding jaw, and flattened bridge of the nose.
Current treatment options for alpha mannosidosis may include bone marrow transplant or peripheral blood stem cell transplantation. Enzyme replacement therapy may be an additional treatment option in the future.
Treatments to address individual symptoms are recommended as needed, such as vaccinations, antibiotics, hearing aids, glasses, orthopedic and other assistive devices, educational interventions, and speech therapy. Regular follow-up to monitor health and treatment response is advised.
Further detailed information on treatment is available at the following link to GeneReviews.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Alpha-Mannosidosis. Genetic Home Reference. 2007; http://www.ghr.nlm.nih.gov/condition/alpha-mannosidosis. Accessed 10/1/2013.
- Malm D, Nilssen O. Alpha-Mannosidosis. GeneReview. 2001; http://www.ncbi.nlm.nih.gov/books/NBK1396/. Accessed 10/1/2013.
- MANNOSIDOSIS, ALPHA B, LYSOSOMAL. OMIM. Updated July 17, 2012; http://omim.org/entry/248500. Accessed 10/1/2013.