Muscle glycogenoses

Salvatore DiMauro, Costanza Lamperti

Research output: Contribution to journalArticlepeer-review


There are 11 hereditary disorders of glycogen metabolism affecting muscle alone or together with other tissues, and they cause two main clinical syndromes: episodic, recurrent exercise intolerance with cramps, myalgia, and myoglobinuria; or fixed, often progressive weakness. Great strides have been made in our understanding of the molecular bases of these disorders, all of which show remarkable genetic heterogeneity. In contrast, the pathophysiological mechanisms underlying acute muscle breakdown and chronic weakness remain unclear. Although glycogen storage age diseases have been studied for decades, new biochemical defects area still being discovered, especially in the glycolytic pathway. In addition, the pathogenesis of polyglucosan deposition is being clarified both in traditional glycogenoses and in disorders such as Lafora's disease. In some conditions, combined dietary and exercise regimens may be of help, and gene therapy, including recombinant enzyme replacement, is being actively pursued.

Original languageEnglish
Pages (from-to)984-999
Number of pages16
JournalMuscle and Nerve
Issue number8
Publication statusPublished - 2001


  • Exercise intolerance
  • Heredity
  • Muscle glycogenosis
  • Weakness

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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