Familial adult-onset Pompe disease associated with unusual clinical and histological features

Lorenzo Maggi, Franco Salerno, Cinzia Bragato, Simona Saredi, Flavia Blasevich, Elio Maccagnano, Barbara Pasanisi, Cesare Danesino, Marina Mora, Lucia Morandi

Research output: Contribution to journalArticlepeer-review


The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings characterized by an unusual adult-onset Pompe disease including dysphagia and weakness of tongue, axial and limb-girdle muscles, in association with atypical globular inclusions in muscle fibres. Our study confirms the great clinical and histological variability of adult-onset Pompe disease and further supports the need of careful evaluation of bulbar function in patients affected by this pathology.

Original languageEnglish
Pages (from-to)85-90
Number of pages6
JournalActa Myologica
Issue number2
Publication statusPublished - 2013


  • Bulbar symptoms
  • Globular inclusions
  • Pompe disease

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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