Morquio Syndrome is a rare genetic disorder that affects the body's ability to break down certain types of complex carbohydrates, known as glycosaminoglycans (GAGs). This condition is also referred to as mucopolysaccharidosis type IV (MPS IV).
Individuals with Morquio Syndrome have a deficiency or absence of specific enzymes that are responsible for breaking down GAGs. As a result, these carbohydrates accumulate in various tissues and organs, leading to a wide range of symptoms.
Some common features of Morquio Syndrome include skeletal abnormalities, such as short stature, abnormal curvature of the spine, and joint deformities. Other symptoms may include heart problems, respiratory difficulties, vision and hearing impairment, and dental issues.
Due to the progressive nature of the disorder, individuals with Morquio Syndrome often experience a decline in their physical abilities over time. However, the severity and progression of symptoms can vary widely among affected individuals.
Treatment for Morquio Syndrome focuses on managing the symptoms and improving quality of life. This may involve a multidisciplinary approach, including surgical interventions, physical therapy, respiratory support, and medication to alleviate specific symptoms.