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Hierarchy  - English - French - German - Spanish - Portuguese - Italian - Dutch    Glycogen Storage Disease Type II Definition: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) Synonym(s): Acid Maltase Deficiency Disease / Generalized Glycogenosis / Glycogenosis 2 / Lysosomal alpha-1,4-Glucosidase Deficiency Disease / See also: Glucan 1,4-alpha-Glucosidase  alpha-Glucosidases    MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

More information from the Genetics Home Reference Website What is Pompe disease? Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. One type of Pompe disease, known as infantile onset, begins within a few months of birth. Infants with this disorder typically exhibit symptoms such as muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver and heart, and heart failure. Affected infants may also have poor feeding, failure to gain weight and grow at the ... How common is Pompe disease? Pompe disease affects about 1 in 40,000 people. More information from the Genetics Home Reference Website © Genetics Home Reference Browse - New search       Web resources for "Glycogen Storage Disease Type II"   English (13)  French (4)    Spanish (1)       = Site with HON description   -   = Site with a robot description info: enter the site: (click below) domain of the site:   Référentiel AccessiWeb CMS 1.0 - Table de correspondance du Référentiel AccessiWeb CMS 1.0 [Général] vers ATAG 1.0 www.braillenet.org   HONcode - Pompe disease - Genetics Home Reference ghr.nlm.nih.gov 2 Pompe Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS) www.ninds.nih.gov 2 HONcode - Pompe - Amicus Q&A www.pompe.org.uk 3 HONcode - Type II: Pompe www.agsdus.org   rare-diseases — National Organization for Rare Disorders www.rarediseases.org   HONcode - Genzyme's Lumizyme BLA Receives Six-Month FDA Review www.drugs.com   HONcode - Arthritis, Musculoskeletal and Skin Diseases Home Page www.drclic.com   AMDA - Acid Maltase Deficiency Association www.amda-pompe.org   AGSD | Association for Glycogen Storage Disease (UK) www.agsd.org.uk   Metabolic Diseases of Muscle | MDA www.mdausa.org   Lysosomal Storage Program - Clinical Programs - Boston Children's Hospital www.childrenshospital.org   See also: - Glucan 1,4-alpha-Glucosidase - alpha-Glucosidases Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Glycogen Storage Disease - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities Browse - New search       Medical image(s) for "Glycogen Storage Disease Type II" No results for this term. Browse other medical images in HONmedia? Broader term(s): - Brain Diseases, Metabolic - Brain Diseases Browse - New search       Medical News for "Glycogen Storage Disease Type II" No results for this term. More health news Broader term(s): - Nervous System Diseases Browse - New search       Scientific articles from MEDLINE for "Glycogen Storage Disease Type II"   - English - French - German - Spanish - Portuguese - Italian - Dutch     All recent articles  Therapy:  by recall    /  by precision  Diagnosis:  by recall    /  by precision  Etiology:  by recall    /  by precision  Prognosis:  by recall    /  by precision Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy Browse - New search       Clinical Trials for "Glycogen Storage Disease Type II" ClinicalTrials.gov - Linking patients to medical research A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II rhGAA in Patients With Infantile-Onset Glycogen Storage Disease-II (Pompe Disease) A Study of rhGAA in Patients With Late-Onset Pompe Disease A Placebo-Controlled Study of Safety and Effectiveness of Myozyme in Patients With Late-Onset Pompe Disease Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease   More results Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Glycogen Storage Disease - Metabolism, Inborn Errors - Congenital, Hereditary, and Neonatal Diseases and Abnormalities Browse - New search       Medical Conferences/Events for "Glycogen Storage Disease Type II" No results for this term. Consult HON's world-wide database of medical meetings Broader term(s): - Glycogen Storage Disease Browse - New search       Refine the search for  "Glycogen Storage Disease Type II" Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy   Broader term(s):       Diseases           Nutritional and Metabolic Diseases               Metabolic Diseases                   Metabolism, Inborn Errors                       Lysosomal Storage Diseases                           Lysosomal Storage Diseases, Nervous System                        Carbohydrate Metabolism, Inborn Errors                           Glycogen Storage Disease                        Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System        Diseases           Nutritional and Metabolic Diseases               Metabolic Diseases                   Brain Diseases, Metabolic                       Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System        Diseases           Congenital, Hereditary, and Neonatal Diseases and Abnormalities               Genetic Diseases, Inborn                   Metabolism, Inborn Errors                       Lysosomal Storage Diseases                           Lysosomal Storage Diseases, Nervous System                        Carbohydrate Metabolism, Inborn Errors                           Glycogen Storage Disease                        Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System        Diseases           Nervous System Diseases               Central Nervous System Diseases                   Brain Diseases                       Brain Diseases, Metabolic                           Brain Diseases, Metabolic, Inborn                               Lysosomal Storage Diseases, Nervous System  MeSH 2010 © U.S. National Library of Medicine®. 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