EURORDIS

   

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Type IV - Morquio syndrom

It is a progressive, multiorgan disease inherited in the autosomal, recessive manner. The defective gene is passed along to a child by a healthy mother and father. The defective gene causes that the child's body does not receive information concerning the enzyme structure. The chances of having a child affected by this syndrome are 25%. The chances of siblings being affected are 2 in 3.

Depending on the missing or deficient enzyme the following subtypes are distinguished:

A - N-acetylgalactosamine 6-sulfatase

B – beta-galactosidase (milder symptoms)

The missing or deficient enzymes result in a series of symptoms like short stature, spine and bone malformations, frequently a bell-shaped chest, short neck, clouded corneas, loss of hearing, motor restraints and restricted breathing. The child's face is subject to change – the lips become wider, jaws more prominent, and the nose becomes flatter, the neck is very short. The symptoms of Morquio syndrome differ from those characteristic of other types of mucopolysaccharidosis as intelligence is normal and the hair structure remains unchanged.

The longterm effects of the disorder may become a life hazard due to the spine and heart damage as well as respiratory issues.

Treatment:

Currently there is no registered/approved treatment available to patients affected by mucopolysaccharidosis type IV.

Available therapy:

There is no satisfactory therapy approved either by the Ministry of Health or the European Union. However, it is of great importance that the affected patients should undergo physical rehabilitation. The therapy may help to relieve the symptoms of the disorder, infections and pain. Medication which combats infections should also be administered as well as oxygen to patients with restricted breathing.

 

   
© Przemysław Racinowski