Clinical consequences of reduced dosing schedule during treatment of a patient with Pompe’s disease

INTRODUCTION Pompe's disease is a metabolic myopathy caused by a deficiency of the enzyme alpha-glucosidase. Patients with late-onset Pompe's disease have progressive muscle weakness, which also affects pulmonary function. Since the advent of specific treatment for Pompe's disease, enzyme replacement therapy with alpha-glucosidase, the prognosis of the disease has changed. METHODS We report the case of the first patient treated in Spain with home therapy, and the effects on her clinical status of a reduction in treatment frequency. RESULTS A worsening was seen in the patient's neuromuscular assessment on different scales, after two discontinuations during the patient's usual administration frequency. CONCLUSION It is essential to keep an adequate administration schedule to maintain the clinical benefits of enzyme therapy.