454 results match your criteria Acid Maltase Deficiency Myopathy


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

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https://actaneurocomms.biomedcentral.com/articles/10.1186/s4
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http://dx.doi.org/10.1186/s40478-018-0620-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220463PMC
November 2018
11 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

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https://jmedicalcasereports.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/s13256-018-1855-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205784PMC
October 2018
20 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

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0932-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204008PMC
October 2018
10 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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203467PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6124783PMC
February 2019
2 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

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http://dx.doi.org/10.1007/s13311-018-0655-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277280PMC
October 2018
30 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

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http://dx.doi.org/10.1016/j.ijcard.2018.07.091DOI Listing
October 2018
2 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

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953231PMC
December 2017
9 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

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http://dx.doi.org/10.1590/0004-282x20180018DOI Listing
April 2018
3 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

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http://dx.doi.org/10.1080/01913123.2018.1447624DOI Listing
October 2018
22 Reads

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

J Inherit Metab Dis 2018 Nov 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

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http://dx.doi.org/10.1007/s10545-018-0166-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326992PMC
November 2018
48 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

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http://dx.doi.org/10.1186/s40246-018-0145-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845361PMC
March 2018
8 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

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February 2018
3 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

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

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

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http://dx.doi.org/10.1186/s13023-017-0722-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693551PMC
November 2017
23 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

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http://dx.doi.org/10.1016/j.ymgme.2017.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907499PMC
December 2017
21 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

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http://dx.doi.org/10.2460/ajvr.78.11.1305DOI Listing
November 2017
60 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

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http://dx.doi.org/10.1111/hdi.12617DOI Listing
April 2018
10 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

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http://dx.doi.org/10.17116/jnevro20171178185-87DOI Listing
February 2018
2 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

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

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http://doi.wiley.com/10.1111/ane.12811
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http://dx.doi.org/10.1111/ane.12811DOI Listing
January 2018
3 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

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http://dx.doi.org/10.1002/ajmg.a.38369DOI Listing
October 2017
26 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

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http://dx.doi.org/10.1186/s13104-017-2681-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534128PMC
July 2017
20 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

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https://linkinghub.elsevier.com/retrieve/pii/S09608966163121
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http://dx.doi.org/10.1016/j.nmd.2017.06.556DOI Listing
October 2017
12 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.

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

[Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].

Zhonghua Er Ke Za Zhi 2017 Jun;55(6):423-427

Department of Pediatric Endocrinology and Genetics, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.

To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability. Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood Spot of the patients. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2017.06.006DOI Listing
June 2017
30 Reads

Screening for Pompe disease in a Portuguese high risk population.

Neuromuscul Disord 2017 Aug 29;27(8):777-781. Epub 2017 Mar 29.

Serviço de Neurologia, Hospital de Santa Maria (Centro Hospitalar de Lisboa Norte, EPE), Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal.

Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. Read More

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http://dx.doi.org/10.1016/j.nmd.2017.03.010DOI Listing
August 2017
13 Reads

Chest Wall Kinematics Using Triangular Cosserat Point Elements in Healthy and Neuromuscular Subjects.

Ann Biomed Eng 2017 08 27;45(8):1963-1973. Epub 2017 Apr 27.

Faculty of Mechanical Engineering, Technion Israel Institute of Technology, 32000, Haifa, Israel.

Optoelectronic plethysmography (OEP) is a noninvasive method for assessing lung volume variations and the contributions of different anatomical compartments of the chest wall (CW) through measurements of the motion of markers attached to the CW surface. The present study proposes a new method for analyzing the local CW kinematics from OEP measurements based on the kinematics of triangular Cosserat point elements (TCPEs). 52 reflective markers were placed on the anterior CW to create a mesh of 78 triangles according to an anatomical model. Read More

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http://dx.doi.org/10.1007/s10439-017-1840-6DOI Listing
August 2017
8 Reads

Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population.

Neuromuscul Disord 2017 Jun 10;27(6):550-556. Epub 2017 Mar 10.

Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea; Rehabilitation Institute of Neuromuscular Disease, Yonsei University College of Medicine, Seoul, South Korea. Electronic address:

We performed targeted population screening of late onset Pompe disease (LOPD) in unspecified myopathy patients, because early diagnosis is difficult due to its heterogeneous clinical features. We prospectively enrolled 90 unrelated myopathic patients who had one or more signs out of five LOPD-like clinical findings (proximal weakness, axial weakness, lingual weakness, respiratory difficulty, idiopathic hyperCKemia). Acid alpha glucosidase activity was evaluated with dried blood spot and mixed leukocyte simultaneously. Read More

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http://dx.doi.org/10.1016/j.nmd.2017.03.005DOI Listing
June 2017
14 Reads

Clinical Analysis of Algerian Patients with Pompe Disease.

J Neurodegener Dis 2017 6;2017:9427269. Epub 2017 Feb 6.

Service de Neurologie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria; Laboratoire de Biologie et de Génétique Moléculaire, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.

Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe's disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Read More

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http://dx.doi.org/10.1155/2017/9427269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5317144PMC
February 2017
8 Reads

Modulation of mTOR signaling as a strategy for the treatment of Pompe disease.

EMBO Mol Med 2017 03;9(3):353-370

Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA

Mechanistic target of rapamycin (mTOR) coordinates biosynthetic and catabolic processes in response to multiple extracellular and intracellular signals including growth factors and nutrients. This serine/threonine kinase has long been known as a critical regulator of muscle mass. The recent finding that the decision regarding its activation/inactivation takes place at the lysosome undeniably brings mTOR into the field of lysosomal storage diseases. Read More

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http://dx.doi.org/10.15252/emmm.201606547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331267PMC
March 2017
26 Reads

[Diagnostic orientation of « Rigid spine » familial case with whole body muscle MRI].

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2:14-16. Epub 2016 Nov 21.

Pôle Pédiatrie, Hôpital Raymond Poincaré, Garches, France - Centre de Référence Maladies Neuromusculaires GNMH, FILNEMUS.

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http://dx.doi.org/10.1051/medsci/201632s205DOI Listing
November 2016
9 Reads

Reveglucosidase alfa (BMN 701), an IGF2-Tagged rhAcid α-Glucosidase, Improves Respiratory Functional Parameters in a Murine Model of Pompe Disease.

J Pharmacol Exp Ther 2017 Feb 16;360(2):313-323. Epub 2016 Nov 16.

BioMarin Pharmaceutical Inc., Novato, California (J.P., K.T., P.H., R.C., S.Z., C.A.O., L.S.T.); MPI Research, Mattawan, Michigan (J.D.); Tox Path Specialists, LLC, Frederick, Maryland (M.B.); UltraGenyx Pharmaceutical Inc., Novato, California (D.K.).

Pompe disease is a rare neuromuscular disorder caused by an acid α-glucosidase (GAA) deficiency resulting in glycogen accumulation in muscle, leading to myopathy and respiratory weakness. Reveglucosidase alfa (BMN 701) is an insulin-like growth factor 2-tagged recombinant human acid GAA (rhGAA) that enhances rhGAA cellular uptake via a glycosylation-independent insulin-like growth factor 2 binding region of the cation-independent mannose-6-phosphate receptor (CI-MPR). The studies presented here evaluated the effects of Reveglucosidase alfa treatment on glycogen clearance in muscle relative to rhGAA, as well as changes in respiratory function and glycogen clearance in respiratory-related tissue in a Pompe mouse model (GAA/J). Read More

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http://dx.doi.org/10.1124/jpet.116.235952DOI Listing
February 2017
15 Reads
3.972 Impact Factor

Transfer of Therapeutic Genes into Fetal Rhesus Monkeys Using Recombinant Adeno-Associated Type I Viral Vectors.

Hum Gene Ther Clin Dev 2016 12;27(4):152-159

1 Powell Gene Therapy Center and Departments of Molecular Genetics and Microbiology and Pediatrics, University of Florida College of Medicine , Gainesville, Florida.

Neuromuscular disorders such as Pompe disease (glycogen storage disease, type II), result in early and potentially irreversible cellular damage with a very limited opportunity for intervention in the newborn period. Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle. Previous studies have shown that fetal delivery of recombinant adeno-associated virus (rAAV) encoding GAA to the peritoneal cavity of Gaa mice resulted in high-level transduction of the diaphragm. Read More

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http://dx.doi.org/10.1089/humc.2016.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5310237PMC
December 2016
25 Reads

Therapeutic Potential of Tricyclo-DNA antisense oligonucleotides.

J Neuromuscul Dis 2016 05;3(2):157-167

Université de Versailles St- Quentin, U1179 INSERM, UFR des Sciences de la Santé - LIA BAHN CSM, France.

Oligonucleotide therapeutics hold great promise for the treatment of various diseases and the antisense field is constantly gaining interest due to the development of more potent and nuclease resistant chemistries. Despite a rather low success rate with only three antisense drugs being clinically approved, the frontiers of AON therapeutic applications have increased over the past three decades and continue to expand thanks to a steady increase in understanding the mechanisms of action of these molecules, progress in chemical modification and delivery.In this review, we will examine the recent advances obtained with the tricyclo-DNA chemistry which displays unique pharmacological properties and unprecedented uptake in many tissues after systemic administration. Read More

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http://dx.doi.org/10.3233/JND-160146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5271482PMC
May 2016
3 Reads

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study.

Neuromuscul Disord 2016 11 6;26(11):796-800. Epub 2016 Sep 6.

Division of Pediatric Neurology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey.

The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry. Read More

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http://dx.doi.org/10.1016/j.nmd.2016.09.001DOI Listing
November 2016
10 Reads

Design of Potent Mannose 6-Phosphate Analogues for the Functionalization of Lysosomal Enzymes To Improve the Treatment of Pompe Disease.

Angew Chem Int Ed Engl 2016 11 24;55(47):14774-14777. Epub 2016 Oct 24.

Institut des Biomolécules Max Mousseron, UMR 5247 CNRS UM, Faculté de Pharmacie, 34093, Montpellier cedex 05, France.

Improving therapeutics delivery in enzyme replacement therapy (ERT) for lysosomal storage disorders is a challenge. Herein, we present the synthesis of novel analogues of mannose 6-phosphate (M6P), known as AMFAs and functionalized at the anomeric position for enzyme grafting. AMFAs are non-phosphate serum-resistant derivatives that efficiently bind the cation-independent mannose 6-phosphate receptor (CI-M6PR), which is the main pathway to address enzymes to lysosomes. Read More

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http://dx.doi.org/10.1002/anie.201607824DOI Listing
November 2016
45 Reads

Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.

Int J Mol Sci 2016 Oct 17;17(10). Epub 2016 Oct 17.

Department of Pulmonology, University Hospital of Cattinara, Trieste 34149, Italy.

Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Read More

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http://dx.doi.org/10.3390/ijms17101735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5085764PMC
October 2016
22 Reads

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

J Hum Genet 2017 Feb 6;62(2):243-252. Epub 2016 Oct 6.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.

The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families affected by LGMD were recruited using an institutionally approved protocol. Exome sequencing was performed on probands and selected parental samples. Read More

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http://dx.doi.org/10.1038/jhg.2016.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266644PMC
February 2017
70 Reads
4 Citations
2.462 Impact Factor

Late-onset pompe disease in Iran: A clinical and genetic report.

Muscle Nerve 2017 06 3;55(6):835-840. Epub 2017 Feb 3.

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114, Iran.

Introduction: Pompe disease is characterized by absence or deficiency of acid α-glucosidase, and several causative mutations are known. In this study we report clinical and laboratory data in Iranian patients with late-onset Pompe disease (LOPD), focusing on population-specific mutations.

Methods: Clinical and laboratory data of 14 patients from 10 families with the diagnosis of LOPD were recorded. Read More

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http://dx.doi.org/10.1002/mus.25413DOI Listing
June 2017
17 Reads

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

Mol Genet Metab 2016 09 19;119(1-2):115-23. Epub 2016 May 19.

Sanofi Genzyme, Cambridge, MA, USA. Electronic address:

Background: Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure. In this population, enzyme replacement therapy (ERT) with alglucosidase alfa has been shown to stabilize respiratory function and improve mobility and muscle strength. Muscle pathology and glycogen clearance from skeletal muscle in treatment-naïve adults after ERT have not been extensively examined. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192163008
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http://dx.doi.org/10.1016/j.ymgme.2016.05.013DOI Listing
September 2016
36 Reads

Analysis of voice quality in patients with late-onset Pompe disease.

Orphanet J Rare Dis 2016 07 15;11(1):99. Epub 2016 Jul 15.

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

Background: Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglottographic, acoustic and nasalance measurement methods on patients with late-onset Pompe disease in order to provide detailed information on the effect of the disease on voice quality. Read More

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http://dx.doi.org/10.1186/s13023-016-0480-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946183PMC
July 2016
9 Reads

[Radiation-Induced Radiculopathy with Paresis of the Neck and Autochthonous Back Muscles with Additional Myopathy].

Fortschr Neurol Psychiatr 2016 Jun 8;84(6):363-7. Epub 2016 Jul 8.

Klinik für Neurologie, St. Josef Hospital, Ruhr-Universität Bochum.

Radiation-induced tissue damage is caused by ionizing radiation mainly affecting the skin, vascular, neuronal or muscle tissue. Early damages occur within weeks and months while late damages may occur months or even decades after radiation.Radiation-induced paresis of the spine or the trunk muscles with camptocormia or dropped-head syndrome are rare but have already been described as long-term sequelae after treatment of Hodgkin's lymphoma. Read More

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http://dx.doi.org/10.1055/s-0042-108195DOI Listing
June 2016
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Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI.

PLoS One 2016 8;11(7):e0158912. Epub 2016 Jul 8.

Biomedical Imaging Group Rotterdam, Departments of Medical Informatics & Radiology, Erasmus MC, Rotterdam, the Netherlands.

Background: Diaphragm weakness is the main reason for respiratory dysfunction in patients with Pompe disease, a progressive metabolic myopathy affecting respiratory and limb-girdle muscles. Since respiratory failure is the major cause of death among adult patients, early identification of respiratory muscle involvement is necessary to initiate treatment in time and possibly prevent irreversible damage. In this paper we investigate the suitability of dynamic MR imaging in combination with state-of-the-art image analysis methods to assess respiratory muscle weakness. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0158912PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938606PMC
July 2017
16 Reads

Long-term, high-level hepatic secretion of acid α-glucosidase for Pompe disease achieved in non-human primates using helper-dependent adenovirus.

Gene Ther 2016 10 1;23(10):743-752. Epub 2016 Jul 1.

Department of Microbiology and Molecular Genetics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA.

Pompe disease (glycogen storage disease type II (GSD-II)) is a myopathy caused by a genetic deficiency of acid α-glucosidase (GAA) leading to lysosomal glycogen accumulation causing muscle weakness, respiratory insufficiency and death. We previously demonstrated in GSD-II mice that a single injection of a helper-dependent adenovirus (HD-Ad) expressing GAA resulted in at least 300 days of liver secretion of GAA, correction of the glycogen storage in cardiac and skeletal muscles and improved muscle strength. Recent reports suggest that gene therapy modeling for lysososomal storage diseases in mice fails to predict outcomes in larger animal models. Read More

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http://www.nature.com/articles/gt201653
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http://dx.doi.org/10.1038/gt.2016.53DOI Listing
October 2016
3 Reads

Anaesthetic management of a patient with Pompe disease for kyphoscoliosis correction.

Indian J Anaesth 2016 May;60(5):349-51

Department of Anaesthesiology, Manipal Hospital, Bengaluru, Karnataka, India.

Pompe disease (PD) is a type II glycogen storage disease, characterised by abnormal glycogen deposition, mainly in heart and skeletal muscles, leading to progressive loss of muscle function. The infantile variety is associated with severe hypertrophic cardiomyopathy and generally do not reach adulthood. The juvenile variety presents with progressive muscle weakness and respiratory failure. Read More

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http://dx.doi.org/10.4103/0019-5049.181597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870949PMC
May 2016
6 Reads

A multi-parametric protocol to study exercise intolerance in McArdle's disease.

Acta Myol 2015 Dec;34(2-3):120-125

Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

McArdle's disease is the most common metabolic myopathy of muscle carbohydrate metabolism, due to deficiency of myophosphorylase and alteration of glycogen breakdown in muscle. The clinical manifestations usually begin in young adulthood, with exercise intolerance, exercise-induced muscle cramps, pain and recurrent episodes of myoglobinuria. Many patients experience the second wind phenomenon, characterized by an improved tolerance for aerobic exercise approximately after eight minutes of motor activity, secondary to the increased availability of blood glucose and free fatty acids associated to an enhanced glucose uptake by muscle cells. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859075PMC
December 2015
42 Reads

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.

Orphanet J Rare Dis 2016 05 17;11(1):63. Epub 2016 May 17.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

Background: Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of these patients. However, they still present residual muscle weakness. In the present study, we used longitudinal muscle magnetic resonance imaging (MRI) to determine whether this condition is progressive. Read More

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http://dx.doi.org/10.1186/s13023-016-0446-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869381PMC
May 2016
54 Reads

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Neurology 2016 Jul 11;87(3):295-8. Epub 2016 May 11.

From Newborn Screening and Metabolic Diagnostics (Z.L., P.N.C.), University Medical Center Hamburg-Eppendorf, Hamburg; Friedrich-Baur Institute, Department of Neurology (S.W., B.S.-W., M.C.W., P.R., T.K., B.S.), and Department of Neuropediatrics, Dr. Von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilian University of Munich, Germany; The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.A.W.), Oswestry; Institute of Genetic Medicine (T.E., M.G., V.S.), Newcastle University; Salford Royal NHS Foundation Trust (M.R.), Salford; UCL Institute of Neurology and National Hospital (R.Q.), Queen Square, London; Department of Neurology (D.H.-J.), Oxford University Hospital, UK; and Department of Neurology (S.Z., M.D.), Halle University, Germany.

Objective: We prospectively screened a large European cohort of patients presenting with hyperCKemia and/or limb-girdle muscular weakness (LGMW) for acid α-glucosidase (GAA) deficiency by dried blood spot (DBS) investigation.

Methods: DBS were collected from 3,076 consecutive adult patients from 7 German and British neuromuscular centers. All specimens were investigated for GAA deficiency by fluorometry. Read More

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http://dx.doi.org/10.1212/WNL.0000000000002758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955273PMC
July 2016
76 Reads