How Hunter syndrome (MPS II) progresses

There are some tell-tale signs of Hunter syndrome that should prompt suspicion of the disease. Learn about some of the common symptoms of Hunter syndrome and the ages at which these are likely to present, along the timeline of an example childhood affected by the condition.

Hunter syndrome or mucopolysaccharidosis II (MPS II) is a rare genetic disease that primarily affects boys, and is passed on via X-linked recessive inheritance.[1] It is a lysosomal storage disease caused by the deficiency or absence of the enzyme iduronate-2-sulfatase (I2S), resulting in the harmful accumulation of glycosaminoglycans (GAGs) in cells, tissues and organs throughout the body.[2]

Early symptoms include: recurrent respiratory infections and recurrent otitis media, inguinal and umbilical hernia, and facial features including a prominent forehead, flattened nasal bridge, enlarged tongue and enlarged head.[1,3] Further symptoms that present over time include short stature, claw-like hands, macrocephaly, joint contractures, hepatomegaly, splenomegaly, cardiomyopathy, developmental delay, spinal cord compression, carpal tunnel syndrome and eye problems.[1,2]

For more information on Hunter syndrome (MPS II), please visit www.huntersyndrome.info

The information found on this channel is not exhaustive, and is not intended to diagnose or advise in the treatment of any illness or disease. This information should not be used in place of advice from your general practitioner or other healthcare professional. If in doubt, please contact your doctor for advice.

This video is intended for an international audience outside the United States. This video has been initiated and funded by Shire, now part of Takeda.

C-ANPROM/INT//2811 April 2018

Видео How Hunter syndrome (MPS II) progresses канала Hunter Syndrome