Mucopolysaccharidoses is a group of inherited metabolic diseases in which a large amount of complex sugar molecules get accumulated in the body cells and tissues due to a defective or missing enzyme. The accumulation of the sugar molecules leads to permanent progressive cellular damage which affects the mental development, appearance and physical abilities along with organ and system functioning.
The affected person may have normal intellect or he/she may be profoundly retarded, may experience development delay or may develop several behavioral problems.
some common symptoms of the condition include:
There is no cure for the condition but medical care is given to treat the systemic conditions and improve the person’s quality of life. Joint problems can be delayed by regular exercise and physical therapy while surgery can help in removing the tonsils and adenoids may improve breathing in the affected people. Surgery can also be helpful in correcting the hernias and help drain excessive cerebrospinal fluid from the brain. Patients with significant corneal clouding may be given corneal transplants to improve the vision. Moreover the non-neurological symptoms and pain can be reduced by enzyme therapy.
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