Mucopolysaccharidosis Type VI

Symptoms

What are the main symptoms of Mucopolysaccharidosis Type VI?

Mucopolysaccharidosis type VI (MPS VI) is a progressive condition, meaning that symptoms will get worse over time, although the speed at which symptoms worsen will vary from person to person. People with MPS VI will usually look normal at birth and won't start showing signs of MPS VI until early childhood. The main symptoms include:

  • skeletal abnormalities - short stature, joint contractures (shortening or hardening of the joints which limits movement), and narrowing of the spinal cord
  • a large head (macrocephaly)
  • too much fluid in the brain (hydrocephalus)
  • distinctive facial features that may be described as "coarse", including a large tongue (macroglossia)
  • heart valve abnormalities
  • an enlarged liver and spleen (hepatosplenomegaly)
  • a soft out-pouching around the belly-button (umbilical hernia) or lower belly (inguinal hernia)
  • a narrow airway which can cause frequent respiratory infections and sleep apnea (when there are pauses in breathing or very shallow breaths during sleep)
  • the cornea (clear covering of the eye) may become cloudy and cause vision loss
  • recurrent ear infections and hearing loss

It is important to note that not all of these symptoms will occur in every individual affected by MPS VI. Also important is the fact that MPS VI does not affect intelligence.

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi

Maroteaux-Lamy Syndrome - Signs & Symptoms: http://www.maroteaux-lamy.com/en-us/pages/patient/Signs.aspx

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