Sixty six-month follow-up of muscle power and respiratory function in a case with adult-type Pompe disease treated with enzyme replacement therapy

J Clin Neuromuscul Dis. 2014 Jun;15(4):152-6. doi: 10.1097/CND.0000000000000029.

Abstract

We report a patient with adult-type Pompe disease treated with enzyme replacement therapy (ERT) for 5.5 years. We evaluated pulmonary function and muscle strength using 6-minute walk test, manual muscle test, and dynamometer-based measurement. The long-term ERT resulted in a substantial improvement in the pulmonary function and a possible stabilization followed by mild deterioration in muscle power measured by dynamometer and 6-minute walk test. Our data may rationalize the long-term use of ERT for adult-type Pompe disease in terms of maintaining pulmonary function.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Disease Progression
  • Enzyme Replacement Therapy*
  • Follow-Up Studies
  • Glycogen Storage Disease Type II / drug therapy*
  • Glycogen Storage Disease Type II / physiopathology*
  • Humans
  • Immunoglobulin G / analysis
  • Male
  • Muscle Strength
  • Muscle, Skeletal / physiopathology*
  • Physical Therapy Modalities
  • Respiration*
  • Respiratory Function Tests
  • alpha-Glucosidases / therapeutic use

Substances

  • Immunoglobulin G
  • alpha-Glucosidases