Alpha Mannosidosis Type 2
Type of disease: Rare conditions
Alpha mannosidosis type 2 is a lysosomal storage disorder. Signs and symptoms develop as a result of the toxic build-up of sugars (i.e., mannose-containing oligosaccharides) in the cells of the body. People with this disorder tend to develop bone abnormalities and muscle weakness by age 10. Signs and symptoms vary, but often include mild to moderate intellectual disability, hearing loss, weakened immune system, distinctive facial features, and cerebellar disorders (e.g., ataxia). Symptoms slowly worsen over time. This disorder is caused by a mutation in MAN2B1 and is inherited in an autosomal recessive fashion.
Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.