Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition.

From our previously described LOPD cohort [20] , we studied only patients being clinically revisited (n = 20). Inclusion criteria for LOPD diagnosis were positivity for at least 2 of the following criteria: low GAA enzyme assay ( ! 30%) [8] , vacuolar myopathy and/or increased acid-phosphatase and/or periodic acid-Schiff stain and double GAA gene mutation. We systematically asked the patients if they had urinary or fecal incontinence, diarrhea or constipation. Main causes of incontinence such as central nervous system disease, peripheral nerve disease, dysautonomia or pelvic surgery were systematically and reasonably excluded by standardized detailed anamnesis and clinical examination in each patient. Women were asked to disclose their maternity status, and in men prostatism was assessed. The main Dear Sir, Late-onset Pompe disease (LOPD) is an autosomal recessive multisystemic lysosomal storage disease caused by acid alpha-glucosidase (GAA) deficiency [1–5] . Incidence of Pompe disease varies between 1: 40,000 and 1: 156,000 [6–8] . Except in myotonic dystrophy type 1 (DM1) [9–12] , incontinence is rarely reported in myopathies [13–15] . Nevertheless, it is a disabling condition in social as well as in professional life [16] . LOPD patients generally have nonhomogeneous muscle involvement (e.g. predominance of atrophy on the posterior compartment of the femoral muscles) [17] . To the best of our knowledge, incontinence has been reported in only 4 LOPD patients (2 urinary and 2 fecal) [18, 19] . Bernstein et al. [19] reported the case of an LOPD incontinent patient with subjective improvement after 3 months of enzyme replacement therapy (ERT). Pathophysiologic hypotheses for incontinence in myopathies include striated and smooth pelvic floor muscle as well as lower motor neuron or autonomic involvement [9–11, 14] . We aimed to assess the prevalence of fecal and urinary incontinence in LOPD and to determine if incontinent patients presented a more severe phenotype. We foReceived: January 2, 2012 Accepted: April 2, 2012 Published online: June 29, 2012