527 results match your criteria Acid Maltase Deficiency Myopathy


Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease).

Front Neurol 2022 21;13:839263. Epub 2022 Mar 21.

Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Department of Neurology, Institute of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.

Pompe disease is an autosomal recessive hereditary lysosomal disorder and correlated with acid α-glucosidase enzyme (GAA) deficiencies, which lead to accumulation of glycogen in all tissues, most notably in skeletal muscles. Adult late-onset Pompe disease (LOPD) is a slowly progressive disease of proximal myopathy with later involvement of the respiratory muscles, resulting in respiratory failure. In this study, we reported a 22-year-old Chinese woman with inability to withstand heavy physical activity since childhood, who presented with respiratory and ambulation weakness in 2 months. Read More

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Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.

Neuromuscul Disord 2022 04 17;32(4):284-294. Epub 2022 Feb 17.

Department of Pediatrics, Neurology and Pathology, Division of Genetics and Genomic Medicine, University of California, Irvine School of Medicine, 101 The City Drive South, ZC4482, Orange, CA, USA; Department of Neurology, University of California, Irvine School of Medicine, Orange, CA, USA; Department of Pathology & Laboratory Medicine, University of California, Irvine School of Medicine, Orange, CA, USA. Electronic address:

Pompe disease is a progressive myopathy resulting from deficiency in lysosomal enzyme acid α-glucosidase (GAA), which leads to glycogen accumulation in lysosomes primarily in skeletal and cardiac muscle. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA works well in alleviating the cardiomyopathy; however, many patients continue to have progressive muscle weakness. The purpose of this study was to evaluate the effectiveness of a respiratory training combined with 24-week supervised resistance training program on muscle strength (measured by Biodex)), and respiratory function including maximum inspiratory pressure (MIP), maximum expiratory pressure (MEP) in subjects with late onset Pompe disease receiving ERT. Read More

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Factors impacting performance on the 6-minute walk test by people with late-onset Pompe disease.

Muscle Nerve 2022 06 13;65(6):693-697. Epub 2022 Apr 13.

Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, University of Lille, Lille, France.

Introduction/aims: Pompe disease is a progressive myopathy that combines motor, respiratory, and cardiac impairments. The 6-min walk test is the gold standard for assessing disease severity at the motor level. The objective of this study was to better determine the parameters that influence the total distance covered in patients with Pompe disease. Read More

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L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.

Ital J Pediatr 2022 Mar 28;48(1):48. Epub 2022 Mar 28.

Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo E Carlo, University of Milan, Via Antonio di Rudinì 8, 20142, Milan, Italy.

Background: Pompe disease (PD) is a disorder of glycogen metabolism conditioning a progressive and life conditioning myopathy. Enzyme replacement therapy (ERT) is currently the best treatment option for PD, but is not resolutive. While other potential therapeutic approaches have been reported before, these have never been tried as co- treatments. Read More

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Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description.

Orphanet J Rare Dis 2022 03 4;17(1):102. Epub 2022 Mar 4.

Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.

Introduction: Patients with Glycogen Storage Disease type II (GSDII), an inheritable metabolic myopathy also known as Pompe disease, are considered to be at risk for severe COVID-19 due to a reduced respiratory function and a tendency to be overweight. However, so far little is known about the course of SARS-CoV-2 infection and side effects of COVID-19 vaccinations in patients with GSDII.

Methods: 169 Dutch Pompe patients are followed at the Erasmus MC Rotterdam. Read More

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Diaphragmatic dysfunction in neuromuscular disease, an MRI study.

Neuromuscul Disord 2022 01 9;32(1):15-24. Epub 2021 Nov 9.

Erasmus MC, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Neurology, Rotterdam, the Netherlands. Electronic address:

The aim of this exploratory study was to evaluate diaphragmatic function across various neuromuscular diseases using spirometry-controlled MRI. We measured motion of the diaphragm relative to that of the thoracic wall (cranial-caudal ratio vs. anterior posterior ratio; CC-AP ratio), and changes in the diaphragmatic curvature (diaphragm height and area ratio) during inspiration in 12 adults with a neuromuscular disease having signs of respiratory muscle weakness, 18 healthy controls, and 35 adult Pompe patients - a group with prominent diaphragmatic weakness. Read More

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January 2022

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.

J Neuromuscul Dis 2022 ;9(2):261-273

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Background: Late onset Pompe disease (LOPD) is rare and generally manifests predominantly as progressive limb girdle muscle weakness. It is linked to the pathogenic mutations in GAA gene, which leads to glycogen accumulation in various tissues.

Materials And Methods: We describe the unusual clinical, biochemical, histopathological and genetic characteristics of 5 cases of LOPD. Read More

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A tale of two diseases: spinal muscular atrophy and Pompe disease.

Lancet Child Adolesc Health 2022 01 22;6(1):2-3. Epub 2021 Nov 22.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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January 2022

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.

Lancet Neurol 2021 12;20(12):1012-1026

Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum München, Munich, Germany.

Background: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen. We assessed the safety and efficacy of avalglucosidase alfa, a recombinant human GAA enzyme replacement therapy specifically designed for enhanced mannose-6-phosphate-receptor targeting and enzyme uptake aimed at increased glycogen clearance, compared with the current approved standard of care, alglucosidase alfa, in patients with late-onset Pompe disease.

Methods: We did a randomised, double-blind, phase 3 trial at 55 sites in 20 countries. Read More

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December 2021

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.

Muscle Nerve 2022 01 8;65(1):96-104. Epub 2021 Nov 8.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genova, Unit of Neurology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.

Introduction/aims: Currently, there are no straightforward guidelines for the clinical and diagnostic management of hyperCKemia, a frequent and nonspecific presentation in muscle diseases. Therefore, we aimed to describe our diagnostic workflow for evaluating patients with this condition.

Methods: We selected 83 asymptomatic or minimally symptomatic patients with persistent hyperCKemia for participation in this Italian multicenter study. Read More

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January 2022

Newborn screening of neuromuscular diseases.

Neuromuscul Disord 2021 10 28;31(10):1070-1080. Epub 2021 Jul 28.

Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, University Hospital Liège & University of Liège, Belgium; MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford, UK. Electronic address:

Neuromuscular diseases represent an heterogenous group of more than 400 diseases, with a very broad phenotypic spectrum. Given their rarity and complexity, neuromuscular diseases are often diagnosed with a very significant delay after which irreversible muscle damage may limit the efficacy of treatments when available. In this context, neonatal screening could constitute a solution for early detection and treatment. Read More

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October 2021

Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.

EMBO Mol Med 2021 11 4;13(11):e14434. Epub 2021 Oct 4.

Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.

Pompe disease is a metabolic myopathy due to acid alpha-glucosidase deficiency. In addition to glycogen storage, secondary dysregulation of cellular functions, such as autophagy and oxidative stress, contributes to the disease pathophysiology. We have tested whether oxidative stress impacts on enzyme replacement therapy with recombinant human alpha-glucosidase (rhGAA), currently the standard of care for Pompe disease patients, and whether correction of oxidative stress may be beneficial for rhGAA therapy. Read More

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November 2021

Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction?

Pulmonology 2021 Nov-Dec;27(6):566-568. Epub 2021 Jul 10.

U.O. di Pneumologia Riabilitativa, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy; Dipartimento di Medicina e Chirurgia, Università degli Studi dell'Insubria, Varese - Como, Italy.

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February 2022

Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease.

J Neuromuscul Dis 2021 ;8(6):979-988

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.

Background: Late Onset Pompe Disease (LOPD) is a rare myopathy characterized by prevailing weakness of trunk and pelvic girdle muscles that causes motor disabilities. Spinal deformities have been reported unclearly on clinical examination. No study quantitatively assessed upright posture defining specific alterations of LOPD various phenotype. Read More

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February 2022

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.

Mol Genet Metab 2021 07 13;133(3):261-268. Epub 2021 May 13.

Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.

Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that presents in the first year of life to adulthood. Clinical presentation is heterogeneous, differential diagnosis is challenging, and diagnostic delay is common. One challenge to differential diagnosis is the overlap of clinical features with those encountered in other forms of acquired/hereditary myopathy. Read More

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Therapeutic efficacy of 3,4-Diaminopyridine phosphate on neuromuscular junction in Pompe disease.

Biomed Pharmacother 2021 05 19;137:111357. Epub 2021 Feb 19.

Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan 20133, Italy.

3,4-Diaminopyridine (3,4-DAP) and its phosphate form, 3,4-DAPP have been used efficiently in the past years to treat muscular weakness in myasthenic syndromes with neuromuscular junctions (NMJs) impairment. Pompe disease (PD), an autosomal recessive metabolic disorder due to a defect of the lysosomal enzyme α-glucosidase (GAA), presents some secondary symptoms that are related to neuromuscular transmission dysfunction, resulting in endurance and strength failure. In order to evaluate whether 3,4-DAPP could have a beneficial effect on this pathology, we took advantage of a transient zebrafish PD model that we previously generated and characterized. Read More

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Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.

J Neuromuscul Dis 2021 ;8(3):401-417

Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.

Background: Metabolic myopathies are a heterogenous group of muscle diseases typically characterized by exercise intolerance, myalgia and progressive muscle weakness. Effective treatments for some of these diseases are available, but while our understanding of the pathogenesis of metabolic myopathies related to glycogen storage, lipid metabolism and β-oxidation is well established, evidence linking treatments with the precise causative genetic defect is lacking.

Objective: The objective of this study was to collate all published evidence on pharmacological therapies for the aforementioned metabolic myopathies and link this to the genetic mutation in a format amenable to databasing for further computational use in line with the principles of the "treatabolome" project. Read More

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November 2021

[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries].

Fortschr Neurol Psychiatr 2021 Dec 9;89(12):630-636. Epub 2021 Feb 9.

Friedrich-Baur- Institut der Neurologischen Klinik , Klinikum der Universität München, Deutschland.

Background: Pompe disease is a lysosomal multisystem disorder with predominant proximal myopathy. Treatment with enzyme replacement therapy (ERT) is available requiring life-long biweekly infusions of recombinant α-glucosidase. To minimize the burden of ERT patients ask for home infusion therapy. Read More

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December 2021

Advances in diagnosis and management of Pompe disease.

Authors:
James E Davison

J Mother Child 2020 Oct 2;24(2):3-8. Epub 2020 Oct 2.

Metabolic Medicine, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive glycogen accumulation due to mutations in the GAA gene. Pompe disease manifests with a broad spectrum of disease severity, ranging from severe infantile-onset diseases such as hypotonia and hypertrophic cardiomyopathy to late-onset diseases such as myopathy and respiratory compromise. The diagnosis requires demonstration of deficiency of the lysosomal acid alpha-glucosidase enzyme, which can be assayed in dried blood spot or liquid blood samples, together with supportive biomarker tests, and confirmed with molecular genetic analysis. Read More

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October 2020

STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa.

J Neurol 2021 Jul 5;268(7):2482-2492. Epub 2021 Feb 5.

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

Background: Pompe disease is one of the few neuromuscular diseases with an approved drug therapy, which has been available since 2006. Our study aimed to determine the real-world long-term efficacy and safety of alglucosidase alfa.

Methods: This multicenter retrospective study (NCT02824068) collected data from adult Pompe disease patients receiving ERT for at least 3 years. Read More

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Late-onset myopathies: clinical features and diagnosis.

Acta Myol 2020 Dec 1;39(4):235-244. Epub 2020 Dec 1.

Department of Neurology, Amsterdam University Medical Centres, Amsterdam, The Netherlands.

Late-onset myopathies are not well-defined since there is no clear definition of 'late onset'. For practical reasons we decided to use the age of 40 years as a cut-off. There are diseases which only manifest as late onset myopathy (inclusion body myositis, oculopharyngeal muscular dystrophy and axial myopathy). Read More

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December 2020

Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.

Neuromuscul Disord 2021 02 6;31(2):91-100. Epub 2020 Dec 6.

1st Department of Neurology, National and Kapodestrian University of Athens, Eginition Hospital, 74, Vas. Sophias Ave., 11528 Athens, Greece.

Late onset Pompe disease (LOPD) is a slowly progressive metabolic myopathy with variable clinical severity. The advent of enzyme replacement therapy (ERT) has modified the natural course of the disease, though the treatment effect on adult patients is modest compared to infants with the classic form. This study aims to describe the long-term clinical outcome of the Greek LOPD cohort, as assessed by 6 min walk test, muscle strength using MRC grading scale and spirometry. Read More

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February 2021

Novel autophagic vacuolar myopathies: Phenotype and genotype features.

Neuropathol Appl Neurobiol 2021 08 1;47(5):664-678. Epub 2021 Feb 1.

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.

Background: Autophagic vacuolar myopathies (AVMs) are an emerging group of heterogeneous myopathies sharing histopathological features on muscle pathology, in which autophagic vacuoles are the pathognomonic morphologic hallmarks. Glycogen storage disease type II (GSDII) caused by lysosomal acid α-glucosidase (GAA) deficiency is the best-characterised AVM.

Aims: This study aimed to investigate the mutational profiling of seven neuromuscular outpatients sharing clinical, myopathological and biochemical findings with AVMs. Read More

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Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.

J Inherit Metab Dis 2021 05 28;44(3):705-717. Epub 2020 Dec 28.

Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

Pompe disease (PD) is caused by deficiency of the enzyme acid α-glucosidase resulting in glycogen accumulation in lysosomes. Clinical symptoms include skeletal myopathy, respiratory failure, and cardiac hypertrophy. We studied plasma proteomic and lipidomic profiles in 12 PD patients compared to age-matched controls. Read More

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Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review.

J Thorac Dis 2020 Oct;12(Suppl 2):S235-S247

Lane Fox Respiratory Service, St. Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Late-onset Pompe disease (LOPD) is a rare autosomal recessive glycogen storage disease that results in accumulation of glycogen in muscle cells causing muscular weakness. It causes a progressive proximal myopathy, accompanied by respiratory muscle weakness, which can lead to ventilatory failure. In untreated LOPD, the most common cause of death is respiratory failure. Read More

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October 2020

Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial.

Neuromuscul Disord 2020 11 28;30(11):904-914. Epub 2020 Sep 28.

Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.

To address progressive respiratory muscle weakness in late-onset Pompe disease (LOPD), we developed a 12-week respiratory muscle training (RMT) program. In this exploratory, double-blind, randomized control trial, 22 adults with LOPD were randomized to RMT or sham-RMT. The primary outcome was maximum inspiratory pressure (MIP). Read More

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November 2020

[Pompe disease treated with enzyme replacement therapy in pregnancy].

Ideggyogy Sz 2020 Sep;73(9-10):339-344

Semmelweis Egyetem, Genomikai Medicina és Ritka Betegségek Intézete Budapest.

Pompe disease is a rare lysosomal storage disease inherited in a recessive manner resulting muscular dystrophy. Due to the lack of the enzyme alpha glucosidase, glycogen accumulates in the cells. In the infantile form of Pompe disease hypotonia and severe cardio-respiratory failure are common leading to death within 2 years if left untreated, while the late-onset form is characterized with limb-girdle and axial muscle weakness accompanied with respiratory dysfunction. Read More

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September 2020

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.

Biomolecules 2020 09 18;10(9). Epub 2020 Sep 18.

Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD 20892, USA.

Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the concept of lysosomal storage diseases, and Pompe disease became the first among many monogenic diseases caused by loss of lysosomal enzyme activities. The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) which aims to halt the natural course of the illness. Read More

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September 2020

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.

Orphanet J Rare Dis 2020 09 14;15(1):247. Epub 2020 Sep 14.

Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, P.O. Box 2060, Rotterdam, 3000, CB, The Netherlands.

Background: Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit distal muscle weakness at an early age, which is in contrast to the primarily proximal and axial muscle weakness in patients with late-onset Pompe disease. This was reason to study the prevalence and severity of distal muscle weakness, and the sequence of muscle involvement over time in patients that had learned to walk under ERT. Read More

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September 2020