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- Each type of mucopolysaccharidosis differs in clinical presentation and has varying degrees of severity. All types have a period of normal growth that is followed by a decline in physical and mental functioning.
- Common physical symptoms include thickened lips and skin, an enlarged tongue and mouth, abnormal bone size and shape, joint pain and stiffness, corneal clouding, hernias, and short stature. Organs may also be enlarged, specifically the liver and spleen.
- Neurological symptoms may occur in some types of MPS. Decreased intellectual capacity, hyperactivity, delirium, and aggressive behavior are often clinical signs.
- Effects on breathing function include sleep apnea, obstructive airway disease, chronic respiratory infections, enlarged tonsils and adenoids, and noisy and difficult breathing.
- Heart abnormalities may be more common in some types of MPS than others. These abnormalities may consist of valve defects, thickening and stiffening of the heart wall, and narrowing of blood vessels.
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