Mucopolysaccharidosis type 2, attenuated form (MPS 2-AF) is a rare, inherited disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. This enzyme is responsible for breaking down certain complex sugars called glycosaminoglycans (GAGs). Without this enzyme, GAGs accumulate in the body, leading to a wide range of physical and mental health problems. Symptoms of MPS 2-AF can include skeletal abnormalities, hearing loss, heart problems, and cognitive impairment. Treatment for MPS 2-AF is focused on managing symptoms and slowing the progression of the disorder.

The symptoms of Mucopolysaccharidosis type 2, attenuated form, vary from person to person, but may include:

-Delayed development
-Mild skeletal abnormalities
-Mild to moderate intellectual disability
-Mild to moderate hearing loss
-Mild to moderate vision problems
-Mild to moderate speech problems
-Mild to moderate joint stiffness
-Mild to moderate heart problems
-Mild to moderate liver and spleen enlargement
-Mild to moderate respiratory problems
-Mild to moderate skin problems
-Mild to moderate kidney problems
-Mild to moderate sleep apnea
-Mild to moderate seizures

Mucopolysaccharidosis type 2, attenuated form is caused by a mutation in the IDS gene, which is responsible for producing the enzyme iduronate-2-sulfatase. This enzyme is responsible for breaking down glycosaminoglycans, which are long chains of sugar molecules found in the body. Without this enzyme, the glycosaminoglycans accumulate in the body, leading to the symptoms of Mucopolysaccharidosis type 2, attenuated form.

The treatments for Mucopolysaccharidosis type 2, attenuated form, include enzyme replacement therapy, hematopoietic stem cell transplantation, and supportive care. Enzyme replacement therapy involves intravenous infusions of the missing enzyme, idursulfase, which helps to reduce the buildup of glycosaminoglycans in the body. Hematopoietic stem cell transplantation is a procedure in which healthy stem cells are transplanted into the patient to replace the defective cells. Supportive care includes physical therapy, occupational therapy, speech therapy, and nutritional support.

1. Family history of Mucopolysaccharidosis type 2, attenuated form
2. Genetic mutation in the IDS gene
3. Male gender
4. Age (onset typically occurs in childhood)
5. Low levels of the enzyme iduronate-2-sulfatase (I2S)
6. Abnormal accumulation of glycosaminoglycans in the body
7. Joint stiffness
8. Carpal tunnel syndrome
9. Abnormal facial features
10. Abnormal skeletal development
11. Abnormalities of the heart and aorta
12. Abnormalities of the eyes
13. Abnormalities of the liver and spleen
14. Abnormalities of the urinary tract
15. Abnormalities of the central nervous system
16. Hearing loss
17. Development

Yes, there is a medication available for Mucopolysaccharidosis type 2, attenuated form. The medication is called Elosulfase Alfa and it is used to treat the symptoms of the condition. Elosulfase Alfa is an enzyme replacement therapy that helps to replace the missing enzyme in the body. It is administered intravenously and can help to improve the symptoms of the condition.