Morquio Syndrome synonyms
What other names are the Morquio Syndrome known by? Synonyms and other terms with which Morquio Syndrome is known.
Morquio Syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is a rare genetic disorder that affects the body's ability to break down certain types of sugar molecules called glycosaminoglycans (GAGs). This condition is inherited in an autosomal recessive manner, meaning that both parents must carry the defective gene for a child to be affected.
Individuals with Morquio Syndrome typically experience a range of symptoms that can vary in severity. These may include skeletal abnormalities such as short stature, abnormal curvature of the spine (kyphoscoliosis), and a distinctive chest shape. They may also have joint laxity and experience frequent joint pain and stiffness. Other common features include enlarged liver and spleen, heart valve abnormalities, hearing loss, and clouding of the cornea.
Due to the progressive nature of Morquio Syndrome, individuals may experience a decline in their physical abilities over time. This can lead to mobility issues and a reduced quality of life. However, the rate of disease progression can vary widely among affected individuals.
Diagnosis of Morquio Syndrome is typically made through a combination of clinical evaluation, genetic testing, and assessment of urinary GAG levels. Early diagnosis is crucial to ensure appropriate management and treatment.
While there is currently no cure for Morquio Syndrome, treatment focuses on managing symptoms and improving quality of life. This may involve a multidisciplinary approach, including regular monitoring of organ function, physical therapy to maintain mobility and strength, and surgical interventions to address skeletal abnormalities. Additionally, enzyme replacement therapy (ERT) has shown promise in slowing down the progression of the disease.
Overall, Morquio Syndrome is a rare genetic disorder characterized by skeletal abnormalities, joint laxity, and various other symptoms. Early diagnosis and comprehensive management can help individuals with Morquio Syndrome lead fulfilling lives despite the challenges posed by the condition.
