Mucopolysaccharidosis (MPS) is a rare lysosomal storage disease characterized by a deficiency or disorder of an enzyme that causes glycosaminoglycans (GAGs) to accumulate in the body. This can lead to abnormal development and function of bones and joints.
Mucopolysaccharidosis (MPS) is a rare disease. Different types can occur at different frequencies, but it usually occurs in one in 100,000 people.
What are the symptoms?
Orthopedic manifestations of MPS may include short stature, bone deformities (e.g. curvature of the spine, crooked bones), joint stiffness and restriction, gait disturbances and joint pain.
How can parents recognize it?
Parents should consult a doctor if they notice symptoms such as bone deformities, short stature, joint stiffness or restriction in their child. Typically, the diagnosis can be made by physical examination, radiologic examinations and blood tests.
Do they have a type?
There are several different types of mucopolysaccharidosis (MPS), which usually differ depending on the cause of the disease and the severity of its symptoms.
Mucopolysaccharidosis Treatment
Treatment of MPS focuses on symptom management. This often includes enzyme replacement therapy, rehabilitation programs, pain management and other supportive therapies.
Do I need supportive devices, therapy?
In some cases of MPS, supportive devices (e.g. orthotics, prostheses) or physical therapy may be recommended. This can help improve the patient’s mobility and quality of life.
In which cases and when is surgery performed?
Surgical intervention may be required to correct bone deformities or relieve joint limitation in MPS patients. However, surgery is usually considered when other treatment methods are inadequate or when certain complications arise.
What do you need to know about Mucopolysaccharidosis?
Mucopolysaccharidosis (MPS) is a genetic disease and requires a multidisciplinary approach. With early diagnosis and appropriate treatment, it is possible to manage symptoms and improve the patient’s quality of life.