Management and treatment of glycogenosis type II

Neurology. 2008 Dec 2;71(23 Suppl 2):S12-36. doi: 10.1212/WNL.0b013e31818da93f.


Glycogenosis type II is a multisystem disorder that requires management by a multidisciplinary team. The team should include several specialists, such as a metabolic disease specialist or biochemical geneticist, cardiologist, pulmonologist, neurologist, neuromuscular specialist, intensivist, orthopedist, respiratory therapist, physical therapist, occupational therapist, otolaryngologist speech therapist, audiologist, genetic counselor, and a metabolic dietician, who, as a team, will be capable of addressing the different manifestations of the condition. Aspects of functional assessment, rehabilitation, nutritional management, care coordination, nursing, genetic counseling, prenatal diagnosis, and screening are discussed in this article. In addition, treatment of glycogenosis type II is reviewed with attention to emerging therapeutic options.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain Diseases, Metabolic, Inborn / diagnosis
  • Brain Diseases, Metabolic, Inborn / physiopathology
  • Brain Diseases, Metabolic, Inborn / therapy
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / physiopathology
  • Cardiomyopathies / therapy
  • Genetic Therapy / methods
  • Genetic Therapy / trends
  • Glycogen Storage Disease Type II / metabolism
  • Glycogen Storage Disease Type II / physiopathology
  • Glycogen Storage Disease Type II / therapy*
  • Humans
  • Muscle, Striated / metabolism
  • Muscle, Striated / physiopathology
  • Muscular Diseases / metabolism
  • Muscular Diseases / physiopathology
  • Muscular Diseases / therapy
  • Patient Care Team / standards
  • Respiratory Paralysis / diagnosis
  • Respiratory Paralysis / physiopathology
  • Respiratory Paralysis / therapy
  • alpha-Glucosidases / deficiency
  • alpha-Glucosidases / genetics


  • alpha-Glucosidases