title: Clinical consequences of reduced dosing schedule during treatment of a patient with Pompe's disease.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  It is essential to keep an adequate administration schedule to maintain the clinical benefits of enzyme therapy.
authors.affiliation: Department of Pneumology, Hospital Universitario Virgen del Rocío, Coto Verde 16, 41120 Gelves, Seville, Spain.
authors.forename: Emilia Barrot
authors.initials: EB
authors.lastname: Cortés
authors.affiliation: Department of Rehabilitation, Hospital Universitario Virgen del Rocío, Seville, Spain.
authors.forename: Juana María Barrera
authors.initials: JM
authors.lastname: Chacón
keywords: Pompe’s disease; alpha-glucosidase replacement enzyme; maltase acid deficiency; neuromuscular disease