Respiratory aspects and pulmonary physiotherapy in the child with mucopolysaccharidosis
Mucopolysaccharidosis is a group of rare genetic disorders caused by the deficiency of enzymes needed to break down glycosaminoglycans, leading to their accumulation in lysosomes and progressive damage to multiple organs. One of the most affected systems is the respiratory system, resulting in chronic restrictive lung disease that limits pulmonary capacity and affects the patient’s quality of life. Therefore, pulmonary rehabilitation and respiratory physiotherapy, along with follow-up by a pediatric pulmonologist, are essential to monitor lung function and detect complications early through specialized tests. These interventions help assess treatment response and improve prognosis, making respiratory care a key component in the comprehensive management of these patients.