Management

Early diagnosis and multidisciplinary care are key to optimizing outcomes.

Management of Mucopolysaccharidosis type VII requires a multidisciplinary approach. The only targeted therapy currently available is enzyme replacement therapy with vestronidase alfa, which helps reduce the buildup of glycosaminoglycans in tissues and can improve various clinical parameters.

Supportive care remains essential. Throughout life, individuals often benefit from interventions addressing skeletal, neurologic, respiratory, cardiac, and developmental complications. This may include surgical fusion for atlantoaxial instability, decompression for spinal stenosis, and orthopaedic surgeries for scoliosis and joint deformities.

Physical and occupational therapy, rehabilitation services, and pain management are important to preserve mobility and daily function.

Children with developmental delay or learning challenges should be enrolled in early intervention programs, receive speech therapy, and have access to appropriate educational accommodations. Airway obstruction and sleep apnoea may be treated with tonsillectomy and adenoidectomy or with non-invasive positive pressure ventilation when needed.

Hearing loss is managed with tympanostomy tubes or hearing aids, and vision problems such as corneal clouding should be monitored and treated by an ophthalmologist.

Feeding difficulties may require nutritional support including thickeners or gastrostomy tube placement, and hernias may need surgical repair.

Cardiovascular issues such as valvular disease or cardiomyopathy should be followed by a cardiologist, and palliative or hospice care may be appropriate in advanced stages.

Genetic counselling should be offered to all families to support informed decision-making and provide guidance on inheritance patterns, recurrence risks, and available management options.