Morquio B mucopolysaccharidoses
What is it?
Morquio syndrome is a rare lysosomal storage disease that is inherited in an autosomal-recessive fashion. The reason for the disease is the missing or low amounts of an enzyme needed to breakdown long chains of sugar molecules. The syndrome is characterized by a unique skeletal dysplasia with excessive accumulation of several proteins. Most individuals with Moequio syndrome appear normal at birth. However, most of them develop skeletal abnormalities within the first year of life.
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Signs & symptoms
Initial clinical signs and symptoms or Morquio syndrome depend on severity. Infants with the disease usually appear normal at birth and often develop skeletal problems within first few years of life. Individuals who suffer from mild Morquio syndrome may not show any symptoms until later in childhood or during adolescence. The most common initial symptoms include pectus carinatum, kyphosis, joint laxity, short stature, abnormal gait, and spinal complications.
Diagnosis
Morquio B syndrome is diagnosed with performing a genetic test after suspecting the disease.
Treatment
For Morquio syndrome type A, a medicine replaces the missing enzyme. This therapy does not available for type B. for both types, symptoms are treated as they occur. A spinal fusion may prevent spinal cord injury in people with underdeveloped neck bones.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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