Muscle MRI in adult-onset acid maltase deficiency

Anna Pichiecchio, Carla Uggetti, Sabrina Ravaglia, Maria Grazia Egitto, Miriam Rossi, Giorgio Sandrini, Cesare Danesino

Research output: Contribution to journalArticlepeer-review


We report the spectrum of muscle involvement on magnetic resonance imaging in 11 patients with a molecularly confirmed diagnosis of adult-onset acid maltase deficiency at different clinical stages. Muscle magnetic resonance imaging showed a selective progressive pattern of muscle involvement with a constant involvement of the adductor magnus and semimembranosus at the early stage of the disease and a later fatty infiltration of the long head of the biceps femoris, semitendinosus and of the anterior thigh muscles. In the advanced phases a selective sparing of sartorius, rectus, and gracilis muscles and peripheral portions of the vastus lateralis was also evident. Muscle strength and magnetic resonance imaging findings were positively correlated. The results suggest that muscle magnetic resonance imaging may provide valuable diagnostic guidance for the assessment of accurate selective muscular involvement in acid maltase deficiency and may help monitor the progression of the disorder. Further control studies in a larger cohort are needed to evaluate the specificity of these findings.

Original languageEnglish
Pages (from-to)51-55
Number of pages5
JournalNeuromuscular Disorders
Issue number1
Publication statusPublished - Jan 2004


  • Acid maltase deficiency
  • Adult Pompe's disease
  • Glycogen storage disease type II
  • Medical Research Council grading scale
  • Muscle magnetic resonance imaging

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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