480 results match your criteria Acid Maltase Deficiency Myopathy


Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.

Rev Neurol (Paris) 2020 Jun 20;176(6):507-515. Epub 2020 Apr 20.

Reference Center of Neuromuscular disorders and ALS, Timone University Hospital, AP-HM, 13385 Marseille, France; Medical Genetics, Aix-Marseille Université, Inserm UMR_1251, 13005 Marseille, France. Electronic address:

In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of emergency measures and a degradation in the organization of neuromuscular reference centers. In this special context, the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance in an attempt to homogenize the management of neuromuscular (NM) patients within the French territory. Hospitalization should be reserved for emergencies, the conduct of treatments that cannot be postponed, check-ups for which the diagnostic delay may result in a loss of survival chance, and cardiorespiratory assessments for which the delay could be detrimental to the patient. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurol.2020.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7167585PMC

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

J Inherit Metab Dis 2020 Feb 16. Epub 2020 Feb 16.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

A potential role of dietary lipids in the management of hepatic glycogen storage diseases (GSDs) has been proposed, but no consensus on management guidelines exists. The aim of this study was to describe current experiences with dietary lipid manipulations in hepatic GSD patients. An international study was set up to identify published and unpublished cases describing hepatic GSD patients with a dietary lipid manipulation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12224DOI Listing
February 2020

Exercise therapy for muscle and lower motor neuron diseases.

Acta Myol 2019 Dec 1;38(4):215-232. Epub 2019 Dec 1.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.

Muscle and lower motor neuron diseases share a common denominator of perturbed muscle function, most often related to wasting and weakness of muscles. This leads to a number of challenges, such as restricted mobility and respiratory difficulties. Currently there is no cure for these diseases. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6955630PMC
December 2019

Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.

Mol Genet Metab 2020 02 17;129(2):73-79. Epub 2019 Oct 17.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, United States of America; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, United States of America. Electronic address:

Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA) leading to progressive myopathy. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA has limitations, including inefficient uptake of rhGAA in skeletal muscle linked to low cation-independent mannose-6-phosphate receptor (CI-MPR) expression.

Purpose: To test the hypothesis that antihypertensive agents causing muscle hypertrophy by increasing insulin-like growth factor 1 expression can increase CI-MPR-mediated uptake of recombinant enzyme with therapeutic effects in skeletal muscle. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7002209PMC
February 2020
1 Read

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

Neurology 2019 11 16;93(19):e1756-e1767. Epub 2019 Oct 16.

From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.

Objective: To determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response.

Methods: In this prospective, multicenter cohort study, we studied 30 patients from the Netherlands and France who had started ERT during the only randomized placebo-controlled clinical trial with ERT in late-onset Pompe disease (NCT00158600) or its extension (NCT00455195) in 2005 to 2008. Main outcomes were walking ability (6-minute walk test [6MWT]), muscle strength (manual muscle testing using Medical Research Council [MRC] grading), and pulmonary function (forced vital capacity [FVC] in the upright and supine positions), assessed at 3- to 6-month intervals before and after the start of ERT. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000008441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946483PMC
November 2019
1 Read

Identification of patients with Pompé disease using routine pathology results: PATHFINDER (creatine kinase) study.

J Clin Pathol 2019 Dec 15;72(12):805-809. Epub 2019 Jul 15.

Metabolic Medicine/Chemical Pathology, Guy's & St Thomas' Hospitals, London, UK

Aims: Adult-onset inherited errors of metabolism can be difficult to diagnose. Some cases of potentially treatable myopathy are caused by autosomal recessive acid α-1,4 glucosidase (acid maltase) deficiency (Pompé disease). This study investigated whether screening of asymptomatic patients with elevated creatine kinase (CK) could improve detection of Pompé disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jclinpath-2019-205711DOI Listing
December 2019
3 Reads

Bright tongue sign in patients with late-onset Pompe disease.

J Neurol 2019 Oct 29;266(10):2518-2523. Epub 2019 Jun 29.

Department of Neurology, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd., Portland, OR, 97239, USA.

Background: Late-onset Pompe disease (LOPD) is an often misdiagnosed inherited myopathy for which treatment exists. We noticed a bright tongue sign on brain MRIs of two patients who were admitted to the ICU for respiratory failure of unclear origin, and who were eventually diagnosed with LOPD. This led us to systematically review brain MRIs of patients with LOPD and various other neuromuscular disorders (NMD). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09455-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6765469PMC
October 2019
3 Reads

Screening for late-onset Pompe disease in Poland.

Acta Neurol Scand 2019 Oct 18;140(4):239-243. Epub 2019 Jun 18.

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Objectives: We aimed to screen for late-onset Pompe disease using the dried blood spot (DBS) test in a cohort of patients with limb-girdle muscle weakness or persistent hyperCKemia.

Materials And Methods: Patients with limb-girdle muscle weakness, persistently elevated CK, rigid spine syndrome, dyspnoea, myalgia or sibling of the patient diagnosed with LOPD were included in the study. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry and followed by genetic testing when required. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ane.13133DOI Listing
October 2019
8 Reads

Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale.

J Neurol 2019 Aug 18;266(8):2010-2017. Epub 2019 May 18.

Department of Radiation Oncology, Cantonal Hospital, 9007, St. Gallen, Switzerland.

Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen accumulation in all organs due to ineffective glycogen clearance by the encoded enzyme. Only one randomized trial demonstrated beneficial effects of respiratory function and meters walked in the 6-min walking test with enzyme replacement therapy (ERT). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09373-2DOI Listing
August 2019
4 Reads

Activated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies.

Chin Med J (Engl) 2019 Apr;132(7):805-810

Institute of Neuromuscular and Neurodegenerative Diseases.

Background: Abnormally activated mechanistic target of rapamycin (mTOR) pathway has been reported in several model animals with inherited metabolic myopathies (IMMs). However, the profiles of mTOR pathway in skeletal muscles from patients are still unknown. This study aimed to analyze the activity of mTOR pathway in IMMs muscles. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/CM9.0000000000000144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6595864PMC
April 2019
26 Reads

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies.

J Clin Pathol 2019 Jul 16;72(7):468-472. Epub 2019 Mar 16.

Division of Neurology, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Aims: As of 2016, there were five patients with Pompe in Slovenia (two infantile, one childhood and two adult onset) with a prevalence of 1:400 000; however, the prevalence of late-onset Pompe disease (LOPD) in some other countries means this ratio could be an underestimate. Since an LOPD muscle biopsy could be unspecific or even normal, the purpose of this study is to assess the prevalence of LOPD in patients with non-diagnostic muscle biopsies.

Methods: Six hundred biopsies were recorded at the Neuromuscular Tissue Bank of the University of Ljubljana for the period 2004-2014. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jclinpath-2018-205446DOI Listing
July 2019
4 Reads

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.

Neurol Sci 2019 Apr 25;40(4):671-681. Epub 2019 Feb 25.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

This is the second part of a two-part document intended to discuss recent therapeutic progresses in genetic neuromuscular disorders. The present review is for diseases of motor neuron and skeletal muscle, some of which reached recently the most innovative therapeutic approaches. Nusinersen, an SMN2 mRNA splicing modifier, was approved as first-ever therapy of spinal muscular atrophy (SMA) by FDA in 2016 and by EMA in 2017. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-03764-zDOI Listing
April 2019
31 Reads

Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.

Neurol Sci 2019 Jul 18;40(7):1453-1455. Epub 2019 Feb 18.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via S. Pansini 5, Naples, Italy.

Pompe disease is a metabolic myopathy, due to deficiency of alpha glucosidase, with a wide clinical spectrum. Enzyme replacement therapy is the only available treatment to improve morbidity and mortality, especially in infantile-onset form. However, some patients experience infusion-associated reactions, which may restrict their access to this treatment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-03744-3DOI Listing

Pearls & Oy-sters: Hydroxychloroquine-induced toxic myopathy mimics Pompe disease: Critical role of genetic test.

Neurology 2019 02;92(7):e742-e745

From the Department of Neurology, University of Miami Miller School of Medicine, FL.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006914DOI Listing
February 2019

Two successfully completed pregnancies in adult onset Pompe disease, under continued treatment with alglucosidase alfa.

Acta Neurol Belg 2019 Mar 4;119(1):147-149. Epub 2019 Feb 4.

Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13760-019-01089-4DOI Listing
March 2019
2 Reads

Neuromuscular ultrasound as an initial evaluation for suspected myopathy: A case report.

Muscle Nerve 2019 05 15;59(5):E31-E32. Epub 2019 Feb 15.

Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.26434DOI Listing
May 2019
4 Reads

Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.

J Am Coll Cardiol 2018 11;72(20):2485-2506

Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.

Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S07351097183858
Publisher Site
http://dx.doi.org/10.1016/j.jacc.2018.08.2182DOI Listing
November 2018
38 Reads

Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study.

J Neurol 2019 Jan 14;266(1):133-147. Epub 2018 Nov 14.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians University Munich, Ziemssenstr. 1a, 80336, Munich, Germany.

Background: In patients with late-onset Pompe disease, progressive respiratory muscle weakness with predominantly diaphragmatic involvement is a frequent finding at later stages of the disease. Respiratory muscle training (RMT) is an established therapy option for patients with several neuromuscular disorders including Duchenne muscular dystrophy. Forced voluntary muscle contractions of inspiration and/or expiration muscles enhance ventilation by increasing respiratory coordination, endurance, and strength. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00415-018-9112-4
Publisher Site
http://dx.doi.org/10.1007/s00415-018-9112-4DOI Listing
January 2019
43 Reads

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.

Acta Neuropathol Commun 2018 11 7;6(1):119. Epub 2018 Nov 7.

Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Previously, we showed that adult muscle stem cells termed satellite cells are present at normal levels in muscle from patients with Pompe disease, but that these are insufficiently activated to repair the severe muscle pathology. Here we characterized the muscle regenerative response during disease progression in a mouse model of Pompe disease and investigated the intrinsic capacity of Gaa satellite cells to regenerate muscle damage. Read More

View Article

Download full-text PDF

Source
https://actaneurocomms.biomedcentral.com/articles/10.1186/s4
Publisher Site
http://dx.doi.org/10.1186/s40478-018-0620-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220463PMC
November 2018
23 Reads

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.

J Med Case Rep 2018 Oct 29;12(1):322. Epub 2018 Oct 29.

Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Mohammed V University, Rabat, Morocco.

Background: Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy. Its prevalence ranges between 1/9000 and 1/40,000. It is caused by compound heterozygous or homozygous mutations in the GAA gene, which encodes for the lysosomal enzyme alpha-glucosidase, required for the degrading of lysosomal glycogen. Read More

View Article

Download full-text PDF

Source
https://jmedicalcasereports.biomedcentral.com/articles/10.11
Publisher Site
http://dx.doi.org/10.1186/s13256-018-1855-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205784PMC
October 2018
28 Reads

Follow-up analysis of voice quality in patients with late-onset Pompe disease.

Orphanet J Rare Dis 2018 10 26;13(1):189. Epub 2018 Oct 26.

Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute in Warsaw, Warsaw, Poland.

Background: Late-onset Pompe disease (LOPD) is a metabolic myopathy disorder characterized by progressive muscle damage and among others dysfunction of the voice apparatus, which affects speech and - above all - voice quality. Symptoms include dysphonia, instability, glottic insufficiency, and tense voice. The aim of this study was to evaluate and compare voice quality disorder in a group of 15 LOPD patients who were first examined in 2014 and then re-examined in 2017. Read More

View Article

Download full-text PDF

Source
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
Publisher Site
http://dx.doi.org/10.1186/s13023-018-0932-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204008PMC
October 2018
36 Reads

Muscle glycogen concentrations and response to diet and exercise regimes in Warmblood horses with type 2 Polysaccharide Storage Myopathy.

PLoS One 2018 5;13(9):e0203467. Epub 2018 Sep 5.

McPhail Equine Performance Center, Department of Large Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan, United States of America.

Type 1 polysaccharide storage myopathy (PSSM1) is a glycogen storage disorder of known cause whereas the basis for type 2 PSSM (PSSM2) is unknown. The same diet and exercise regime prescribed for PSSM1 is recommended for PSSM2; however, the benefit of these recommendations for PSSM2 is undocumented. The objectives of this study were to determine traits of PSSM2 Warmblood horses (WB), determine the changes in exercise responses that occur with a recommended low-starch/fat-supplemented diet and exercise regime, and determine if glycogen concentrations correspond to the severity of signs. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203467PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6124783PMC
February 2019
12 Reads

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

J Inherit Metab Dis 2018 11 28;41(6):937-946. Epub 2018 Aug 28.

Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380, Garches, France.

Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset < 1 year) to a milder adult onset myopathy. The aims of this study were to characterize the GAA mutations, to establish the disease epidemiology, and to identify potential genotype-phenotype correlations in French late-onset PD patients (onset ≥ 2 years) diagnosed since the 1970s. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-018-0243-7DOI Listing
November 2018
14 Reads

Pompe Disease: From Basic Science to Therapy.

Neurotherapeutics 2018 10;15(4):928-942

Cell Biology and Physiology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. While an optimist might be excited about the advances made during this time, a pessimist would note that we have yet to find a cure. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13311-018-0655-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277280PMC
October 2018
57 Reads

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.

Int J Cardiol 2018 Oct 19;269:104-110. Epub 2018 Jul 19.

Pompe Center and Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address:

Background: Cardiac failure is the main cause of death in untreated classic infantile Pompe disease, an inheritable metabolic myopathy characterized by progressive hypertrophic cardiomyopathy. Since the introduction of enzyme replacement therapy (ERT), survival has increased significantly due to reduced cardiac hypertrophy and improved cardiac function. However, little is known about ERT's long-term effects on the heart. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2018.07.091DOI Listing
October 2018
11 Reads

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.

Sci Rep 2018 Jul 18;8(1):10898. Epub 2018 Jul 18.

Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the progression of muscle symptoms. Reliable biomarkers are needed to follow up ERT-treated and asymptomatic LOPD patients in clinical practice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-018-29170-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052002PMC
July 2018
46 Reads

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Neuromuscul Disord 2018 07 9;28(7):586-591. Epub 2018 Apr 9.

Dipartimento di Medicina di Precisione, Università degli Studi della Campania "Luigi Vanvitelli", Napoli, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.

Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the first tier analysis in all undiagnosed patients with hyperCKemia and/or limb-girdle muscular weakness. By using MotorPlex, a targeted gene panel for next generation sequencing, we analyzed GAA and other muscle disease-genes in a large cohort of undiagnosed patients with suspected inherited skeletal muscle disorders (n = 504). In this cohort, 275 patients presented with limb-girdle phenotype and/or an isolated hyperCKemia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2018.03.011DOI Listing
July 2018
26 Reads

Enzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow up.

Neurol Neurochir Pol 2018 Aug 17;52(4):465-469. Epub 2018 May 17.

Ist Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.

Introduction: Late-onset Pompe disease (LOPD) is a progressive metabolic myopathy, affecting skeletal muscles, which, if untreated, leads to disability and/or respiratory failure. The enzyme replacement therapy (ERT) improves muscle strength and respiratory function and prevents disease progression. We present a 6-year follow-up of 5 patients with LOPD treated with ERT. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pjnns.2018.05.002DOI Listing
August 2018
10 Reads

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients.

Orphanet J Rare Dis 2018 05 22;13(1):82. Epub 2018 May 22.

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, PO Box 2040, 3000, CA, Rotterdam, the Netherlands.

Background: Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair and respirator dependency. Clinical studies have shown enzyme replacement therapy (ERT) to positively affect motor and respiratory outcomes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0824-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5964954PMC
May 2018
26 Reads

Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.

Acta Myol 2017 Dec 1;36(4):191-198. Epub 2017 Dec 1.

Center for Neuromuscular Diseases "Paolo Peirolo", Department of Neuroscience "Rita Levi Montalcini", University of Turin, Italy.

Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953231PMC
December 2017
30 Reads

Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?

Arq Neuropsiquiatr 2018 Apr;76(4):247-251

Departamento de Clínica Médica, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brasil.

Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with "unexplained" limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/0004-282x20180018DOI Listing
April 2018
7 Reads

Pompe disease: An Indian series diagnosed on muscle biopsy by ultrastructural characterization.

Ultrastruct Pathol 2018 May-Jun;42(3):211-219. Epub 2018 Mar 22.

a Department of Pathology , All India Institute of Medical Sciences , New Delhi , India.

Pompe disease (PD) is a lysosomal storage disorder characterized by glycogen accumulation in muscle, with infantile-onset (IOPD) and late-onset (LOPD) types. Nineteen cases of PD were diagnosed over a 14-year period on muscle biopsy by ultrastructural examination. Pools of glycogen (intralysosomal and cytoplasmic) and excessive phagocytosis were seen in myofibers on electron microscopy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/01913123.2018.1447624DOI Listing
October 2018
29 Reads
1.133 Impact Factor

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.

J Inherit Metab Dis 2018 11 19;41(6):1205-1214. Epub 2018 Mar 19.

Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.

Objectives: Pompe disease is a progressive metabolic myopathy for which enzyme replacement therapy (ERT) was approved in 2006. While various publications have examined the effects of ERT in classic-infantile patients and in adults, little has been published on ERT in children with non-classic presentations.

Study Design: This prospective study was conducted from June 1999 to May 2015. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-018-0166-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326992PMC
November 2018
80 Reads

2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease.

Hum Genomics 2018 03 9;12(1):14. Epub 2018 Mar 9.

Department of Diagnostic, Interventional and Pediatric Radiology, Inselspital Bern University Hospital, University of Bern, Bern, Switzerland.

Background: Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. In adult patients, PD is characterized by slowly progressive limb-girdle and trunk myopathy and restrictive respiratory insufficiency. Enzyme replacement therapy (ERT) is available, improving or stabilizing muscle-function in some and slowing deterioration in other patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40246-018-0145-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845361PMC
March 2018
13 Reads

[A new phenotype of infantile-onset Pompe disease].

Rev Neurol 2018 Feb;66(4):121-124

Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.

Introduction: Infantile-onset Pompe disease is a kind of glycogenosis resulting from a deficit of the enzyme acid alpha-glucosidase. Before specific enzyme replacement therapy (ERT) became available, the classic form was fatal during the first two years of life. ERT increases survival and improves cardiac, respiratory and motor functioning. Read More

View Article

Download full-text PDF

Source
February 2018
8 Reads

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

Orphanet J Rare Dis 2018 02 8;13(1):32. Epub 2018 Feb 8.

Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

Background: Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a close relationship between clinical outcome and patients' cross-reactive immunological status (CRIM), being CRIM-negative status a negative prognostic factor. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0771-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806382PMC
February 2018
38 Reads
2 Citations
3.360 Impact Factor

A database for screening and registering late onset Pompe disease in Turkey.

Neuromuscul Disord 2018 03 20;28(3):262-267. Epub 2017 Dec 20.

Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey. Electronic address:

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.12.008DOI Listing
March 2018
40 Reads

Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy.

Neuromuscul Disord 2018 03 7;28(3):257-261. Epub 2017 Dec 7.

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

We examined patients with limb-girdle muscle weakness and/or hyper-CKaemia and undiagnosed muscle biopsy for late onset Pompe disease (LOPD). Patients with an inconclusive limb-girdle muscle weakness who presented at our neuromuscular centre between 2005 and 2015 with undiagnosed muscle biopsies were examined by dry blood spot testing (DBS) including determination of the enzyme activity of acid alpha-glucosidase (GAA). In the case of depressed enzyme activity, additional gene testing of the GAA gene was carried out. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.12.001DOI Listing
March 2018
11 Reads

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Orphanet J Rare Dis 2017 11 17;12(1):173. Epub 2017 Nov 17.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

Background: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents with progressive weakness of limb-girdle muscles and respiratory insufficiency. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-017-0722-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693551PMC
November 2017
54 Reads

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Mol Genet Metab 2017 12 17;122(4):189-197. Epub 2017 Oct 17.

Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmatory. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907499PMC
December 2017
44 Reads

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.

Sci Rep 2017 11 8;7(1):15089. Epub 2017 Nov 8.

Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.

Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy. We previously showed that modulation of autophagy and lysosomal exocytosis by overexpression of the transcription factor EB (TFEB) gene was effective in improving muscle pathology in PD mice injected intramuscularly with an AAV-TFEB vector. Here we have evaluated the effects of TFEB systemic delivery on muscle pathology and on functional performance, a primary measure of efficacy in a disorder like PD. Read More

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41598-017-15352-2
Publisher Site
http://dx.doi.org/10.1038/s41598-017-15352-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678083PMC
November 2017
24 Reads

Clinical characteristics and muscle glycogen concentrations in warmblood horses with polysaccharide storage myopathy.

Am J Vet Res 2017 Nov;78(11):1305-1312

OBJECTIVE To characterize clinical findings for polysaccharide storage myopathy (PSSM) in warmblood horses with type 1 PSSM (PSSM1; caused by mutation of the glycogen synthase 1 gene) and type 2 PSSM (PSSM2; unknown etiology). SAMPLE Database with 3,615 clinical muscle biopsy submissions. PROCEDURES Reported clinical signs and serum creatine kinase (CK) and aspartate aminotransferase (AST) activities were retrospectively analyzed for horses with PSSM1 (16 warmblood and 430 nonwarmblood), horses with PSSM2 (188 warmblood and 646 nonwarmblood), and warmblood horses without PSSM (278). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2460/ajvr.78.11.1305DOI Listing
November 2017
105 Reads

Late-onset Pompe's disease in a hemodialysis patient: A first case report.

Hemodial Int 2018 04 3;22(2):E23-E25. Epub 2017 Oct 3.

Department of Nephrology, Faculty of Medicine, University of Thessaly, Larissa, Greece.

A 37-year-old hemodialysis patient appeared with unusual somnolence during 2 successive hemodialysis sessions. Blood gas analysis revealed hypercapnic respiratory failure and spirometry restrictive lung disease. After exclusion of other causes of restrictive lung disease with chest CT-scan and cerebrum MRI, electrophysiological study revealed myopathy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hdi.12617DOI Listing
April 2018
18 Reads

[First cases of Pompe's disease in Kazakhstan].

Zh Nevrol Psikhiatr Im S S Korsakova 2017;117(8):85-87

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan.

The article presents the clinical observations of two newly diagnosed patients with Pompe disease in the Republic of Kazakhstan, confirmed by genetic research. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17116/jnevro20171178185-87DOI Listing
February 2018
7 Reads

Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease.

Acta Neuropathol Commun 2017 09 6;5(1):66. Epub 2017 Sep 6.

INRA UMR U703, Animal Pathophysiology and Biotherapy for Muscle and Nervous system Diseases, UMR 703 PAnTher INRA/ONIRIS, ONIRIS, CS 40706, F-44307, Nantes Cedex 03, France.

Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement therapy (ERT) has recently prolonged the lifespan of these patients, revealing a new natural history. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40478-017-0464-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585940PMC
September 2017
9 Reads

Screening for late-onset Pompe disease in western Denmark.

Acta Neurol Scand 2018 Jan 22;137(1):85-90. Epub 2017 Aug 22.

Department of Neurology, Aarhus University Hospital, Aarhus C, Denmark.

Objective: Late-onset Pompe disease (LOPD) is a rare autosomal recessively inherited metabolic myopathy caused by reduced activity of the lysosomal enzyme alpha-glucosidase. In a previous screening study at two large neuromuscular university clinics in Denmark, three patients with LOPD were identified out of 103 patients screened. No systematic screening has been performed at the other neurological departments in the western part of Denmark. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ane.12811
Publisher Site
http://dx.doi.org/10.1111/ane.12811DOI Listing
January 2018
6 Reads

Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

Am J Med Genet A 2017 Oct 1;173(10):2628-2634. Epub 2017 Aug 1.

Duke University Medical Center, Durham, North Carolina.

Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late-onset presentations. In 2015, Pompe disease was added as a core condition to the Recommended Uniform Screening Panel for state newborn screening (NBS). The clinical importance of Pompe disease is evolving with the use of NBS, increasing awareness of the disease, and higher than previously reported disease prevalence; however, current practices miss additional diagnostic and potential treatment opportunities in close relatives of the family proband. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38369DOI Listing
October 2017
45 Reads

Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients.

BMC Res Notes 2017 Jul 28;10(1):351. Epub 2017 Jul 28.

Department of Radiology, Princess Margaret Hospital, Kowloon, Hong Kong SAR.

Objective: Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. Recently, LOPD has been associated with low bone mineral density (BMD), but the effect of ERT on BMD is inconclusive. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13104-017-2681-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534128PMC
July 2017
45 Reads

Treatment with enzyme replacement therapy during pregnancy in a patient with Pompe disease.

Neuromuscul Disord 2017 Oct 5;27(10):956-958. Epub 2017 Jul 5.

Department of Clinical Pharmacology, Aarhus University Hospital, Wilhelm Meyers Allé 4, 8000 Aarhus C, Denmark.

Pregnancy is in general physically demanding, even more so for women with hereditary muscular diseases (HMDs). With increasing numbers of women with HMD reaching reproductive age, there is a growing need for research into what impact pregnancy can have on their clinical condition. A 25-year-old woman was diagnosed with Pompe disease at the age of 22 and began enzyme replacement therapy (ERT) right away. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966163121
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2017.06.556DOI Listing
October 2017
26 Reads

Case 3: Chronic Muscle Pain in a 15-year-old Girl.

Pediatr Rev 2017 Jul;38(7):334

Division of Neurology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/pir.2016-0041DOI Listing
July 2017
12 Reads