INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders. METHODS: Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease. METHODS: A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken. CONCLUSIONS: A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients' condition should be reevaluated to determine whether ERT should be continued.
INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders. METHODS: Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease. METHODS: A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken. CONCLUSIONS: A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients' condition should be reevaluated to determine whether ERT should be continued.
Authors: F Martiniuk; A Chen; A Mack; E Arvanitopoulos; Y Chen; W N Rom; W J Codd; B Hanna; P Alcabes; N Raben; P Plotz Journal: Am J Med Genet Date: 1998-08-27
Authors: Léon P F Winkel; Marloes L C Hagemans; Pieter A van Doorn; M Christa B Loonen; Wim J C Hop; Arnold J J Reuser; Ans T van der Ploeg Journal: J Neurol Date: 2005-08 Impact factor: 4.849
Authors: Linda E M van den Berg; Adrienne A Zandbergen; Carine I van Capelle; Juna M de Vries; Wim C Hop; Johanna M van den Hout; Arnold J J Reuser; M Carola Zillikens; Ans T van der Ploeg Journal: Bone Date: 2010-06-25 Impact factor: 4.398
Authors: J Honig; F Martiniuk; P D'Eustachio; C Zamfirescu; R Desnick; K Hirschhorn; L R Hirschhorn; R Hirschhorn Journal: Ann Hum Genet Date: 1984-01 Impact factor: 1.670
Authors: A Schüller; C Kornblum; M Deschauer; M Vorgerd; B Schrank; E Mengel; Z Lukacs; D Gläser; P Young; U Plöckinger; B Schoser Journal: Nervenarzt Date: 2013-12 Impact factor: 1.214
Authors: Harrison N Jones; Maragatha Kuchibhatla; Kelly D Crisp; Lisa D Hobson-Webb; Laura Case; Milisa T Batten; Jill A Marcus; Richard M Kravitz; Priya S Kishnani Journal: Neuromuscul Disord Date: 2020-09-28 Impact factor: 4.296
Authors: Daniel A Morris; Daniela Blaschke; Alice Krebs; Sima Canaan-Kühl; Ursula Plöckinger; Gesine Knobloch; Thula C Walter; York Kühnle; Leif-Hendrik Boldt; Elisabeth Kraigher-Krainer; Burkert Pieske; Wilhelm Haverkamp Journal: Int J Cardiovasc Imaging Date: 2015-03-06 Impact factor: 2.357
Authors: Majed Dasouki; Omar Jawdat; Osama Almadhoun; Mamatha Pasnoor; April L McVey; Ahmad Abuzinadah; Laura Herbelin; Richard J Barohn; Mazen M Dimachkie Journal: Neurol Clin Date: 2014-08 Impact factor: 3.806