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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Alpha mannosidosis type 2


Other Names for this Disease
  • Alpha-mannosidosis adult-onset form
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Symptoms


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What are the signs and symptoms of alpha mannosidosis type 2?

More common signs and symptoms of alpha mannosidosis type 2 include:[1][2]

Bone abnormalities
Muscle weakness
Intellectual disability
Developmental delays (e.g., motor and speech)
Hearing loss
Weakened immune system
Cerebellar disorders (e.g., ataxia)
Occasional psychiatric symptoms (e.g., depression, anxiety, or hallucinations)
Cataract
Enlarged liver and spleen (with normal function)
Arthritis

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.

Last updated: 10/1/2013

References
  1. Alpha-Mannosidosis. Genetics Home Reference. 2007; http://www.ghr.nlm.nih.gov/condition/alpha-mannosidosis. Accessed 10/1/2013.
  2. Malm D, Nilssen O. Alpha-Mannosidosis. GeneReview. 2001; http://www.ncbi.nlm.nih.gov/books/NBK1396/. Accessed 10/1/2013.