Pompe disease: a neuromuscular disease with respiratory muscle involvement

Respiratory Medicine
U Mellies, Frédéric Lofaso

Abstract

Pompe disease is a single disease continuum that includes variable neuromuscular symptoms and rates of progression. However, specific clinical features, such as an early onset of respiratory problems preceding limb muscular weakness, distinguish Pompe disease from other neuromuscular diseases in which respiratory insufficiency occurs after loss of ambulation. The management of Pompe disease also differs from other neuromuscular diseases in that specific treatment is now available, making early recognition of the disease a priority. The results from clinical trials with recombinant human acid alpha-glucosidase have been published, and they show promising results with regards to the improvement of respiratory function in patients with Pompe disease. This review aims to give an overview of Pompe disease and to describe the current concepts of the disease. A focus is placed on the pathophysiology and clinical presentation of respiratory muscle involvement in adults. Additionally, new approaches and therapies available for the management of respiratory complications observed in Pompe disease are discussed in detail.

References

Dec 1, 1986·Anaesthesia·H J McFarlane, N Soni
May 1, 1984·Journal of Neurology, Neurosurgery, and Psychiatry·R W KeunenE M Joosten
Jun 1, 1981·Annals of Neurology·E D SivakJ Golish
Nov 1, 1995·Thorax·M I PolkeyJ Moxham
Sep 14, 1999·European Journal of Human Genetics : EJHG·M G AusemsA T van der Ploeg
Jan 5, 2000·American Journal of Respiratory and Critical Care Medicine·C A Hukins, D R Hillman
Jul 14, 2000·Chest·S W Kang, J R Bach
Mar 10, 2001·Archives of Physical Medicine and Rehabilitation·C FromageotJ C Raphaël
Aug 21, 2002·American Journal of Respiratory and Critical Care Medicine·UNKNOWN American Thoracic Society/European Respiratory Society
Dec 20, 2003·European Journal of Human Genetics : EJHG·Rui PintoM C Sá Miranda
May 4, 2004·Pediatrics·Johanna M P Van den HoutAns T Van der Ploeg
May 22, 2004·Paediatric Anaesthesia·Richard J IngPriya S Kishnani
Jun 30, 2004·Sleep Medicine·Antonio Culebras
Jan 22, 2005·Brain : a Journal of Neurology·M L C HagemansA T Van der Ploeg
Feb 17, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Deborah Marsden
Feb 24, 2005·Neuromuscular Disorders : NMD·Werner KlinglerKarin Jurkat-Rott
Mar 16, 2005·Respiratory Physiology & Neurobiology·Grégoire TrebbiaFrédéric Lofaso
Sep 13, 2005·Current Opinion in Neurology·Uwe MelliesThomas Voit
Apr 18, 2006·Pediatric Pulmonology·Christian Dohna-SchwakeUwe Mellies
Apr 20, 2006·Neuromuscular Disorders : NMD·C Dohna-SchwakeU Mellies
May 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN ACMG Work Group on Management of Pompe DiseaseMichael S Watson
May 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Laura Elizabeth Case, Priya Sunil Kishnani
Jun 2, 2006·The Journal of Pediatrics·Priya S KishnaniUNKNOWN Infantile-Onset Pompe Disease Natural History Study Group
Feb 20, 2007·Journal of Inherited Metabolic Disease·D D KoeberlY T Chen
Apr 7, 2007·American Journal of Respiratory and Critical Care Medicine·Jesús SanchoJulio Marín

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Citations

Mar 5, 2011·Musculoskeletal Surgery·L VolpiG Siciliano
Jul 12, 2013·International Journal of Endocrinology and Metabolism·George PapadimasPanagiota Manta
May 12, 2012·Brain : a Journal of Neurology·Gerald PfefferPatrick F Chinnery
May 4, 2016·Respiratory Medicine Case Reports·Misbah BaqirEric J Olson
Jan 14, 2012·Physical Medicine and Rehabilitation Clinics of North America·Melissa A GoddardMartin K Childers
Mar 29, 2011·Molecular Genetics and Metabolism·Barry J ByrneAns van der Ploeg
Oct 12, 2010·Molecular Genetics and Metabolism·G K PapadimasP Manta
Jun 18, 2010·Molecular Genetics and Metabolism·Karen M AsheRodney J Moreland
Feb 28, 2016·Respiratory Physiology & Neurobiology·Sara M F TurnerDavid D Fuller
Dec 17, 2011·Muscle & Nerve·Edward J CuplerUNKNOWN AANEM Consensus Committee on Late-onset Pompe Disease
Jan 19, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela SchüllerBenedikt Schoser
Sep 17, 2015·Orphanet Journal of Rare Diseases·Tim A KantersLeona Hakkaart
Nov 8, 2014·Journal of Neurology·Gerald PfefferPatrick F Chinnery
Nov 5, 2014·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M BoentertP Young
Jan 9, 2015·American Journal of Respiratory Cell and Molecular Biology·Mai K ElMallahDavid D Fuller
Jan 14, 2012·Revue des maladies respiratoires·T PerezB Wallaert
Sep 21, 2011·Molecular Genetics and Metabolism·Mark RobertsLaura E Case
Jun 26, 2013·Respiratory Physiology & Neurobiology·David D FullerBarry J Byrne
Jun 4, 2013·Respiratory Physiology & Neurobiology·Rebecca A Johnson, Gordon S Mitchell
Sep 14, 2014·Human Molecular Genetics·Darin J FalkBarry J Byrne
May 5, 2016·American Journal of Medical Genetics. Part a·Sujay KansagraPriya S Kishnani
May 18, 2016·Orphanet Journal of Rare Diseases·C I van CapelleA T van der Ploeg
Sep 21, 2016·Muscle & Nerve·Ferdos NazariShahriar Nafissi
Apr 6, 2017·Jornal brasileiro de pneumologia : publicaça̋o oficial da Sociedade Brasileira de Pneumologia e Tisilogia·Bruna de Souza SixelJuan Clinton Llerena
Dec 23, 2015·Arquivos de neuro-psiquiatria·Juan Clinton Llerena JuniorLineu Cesar Werneck
Dec 20, 2011·European Neurology·G K PapadimasP Manta
May 29, 2018·Neurologia i neurochirurgia polska·Grzegorz WitkowskiHalina Sienkiewicz-Jarosz
May 23, 2019·Pediatric Pulmonology·Nisa Eda Çullas IlarslanFatma Tuba Eminoglu
Nov 20, 2016·The Journal of Pharmacology and Experimental Therapeutics·Jeffrey PengLaurie S Tsuruda
Mar 6, 2019·Neurology·Anibal ChertcoffBjarne Udd
Jul 16, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Priya S KishnaniUNKNOWN ACMG
Sep 17, 2020·Life·Ozlem Goker-AlpanPriya S Kishnani
Feb 3, 2016·Journal of Inherited Metabolic Disease·Federica MontagneseAntonio Toscano
Oct 4, 2017·Hemodialysis International·Theodoros EleftheriadisIoannis Stefanidis
Jan 28, 2017·Respirology Case Reports·Cara O'CallaghanBenjamin Tsang
Mar 6, 2019·Orphanet Journal of Rare Diseases·Marco ConfalonieriUNKNOWN AIPO Pneumoloped Group
May 8, 2020·Cells·Purvi C TrivediThomas Pulinilkunnil
Oct 14, 2020·The International Journal of Neuroscience·Gerasimos TerzisConstantinos Papadopoulos
Nov 20, 2020·Internal Medicine Journal·Heidi PetersJeff Szer

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