Élodie is still smiling
Nine-year-old Élodie was diagnosed with Morquio disease type A in November 2006. She underwent three surgeries: cervical fusion, surgery on both hips and, finally, on both knees.
She’s still smiling….
Morquio disease or syndrome
Mucopolysaccharidosis type IV (two forms: A and B)
MPS-IV
Morquio disease is an inherited, progressive disorder belonging to a class of diseases known as “lysosomal overload”. Glycoaminoglycans or mucopolysaccharides (large sugar molecules), which are normally eliminated or recycled by the body, accumulate in the body’s cells. Symptoms appear during childhood as a result of this accumulation, and present themselves as abnormal bone development, generally resulting in significant physical handicap and short stature, without intellectual deficits. Other body systems may also be affected (cardiac, pulmonary, auditory, etc.). The disease can vary greatly from one person to another.
Morquio disease affects boys and girls equally. Approximately one person in 30,000 is affected, born to parents who do not have the disease (they carry the defective gene, but are not affected). Two carrier parents have a 25% probability of having an affected child in each pregnancy.
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