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Hierarchy  - English - French - German - Spanish - Portuguese - Italian - Dutch    Sandhoff Disease Definition: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE A. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE. Synonym(s): G(M2) Gangliosidosis, Type II / Gangliosidosis G(M2), Type II / Hexosaminidase A and B Deficiency Disease / Adult Sandhoff Disease / See also: beta-N-Acetylhexosaminidase  G(M2) Ganglioside    MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

More information from the Genetics Home Reference Website What is Sandhoff disease? Sandhoff disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord (the central nervous system). The most common and severe form of Sandhoff disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Sandhoff d ... How common is Sandhoff disease? Sandhoff disease is a rare disorder; its frequency varies among populations. This condition appears to be more common in the Creole population of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people from Lebanon. More information from the Genetics Home Reference Website © Genetics Home Reference Browse - New search       Web resources for "Sandhoff Disease"   English (6)  French (2)  German (1)  Spanish (2)       = Site with HON description   -   = Site with a robot description info: enter the site: (click below) domain of the site:   Sandhoff Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com www.wrongdiagnosis.com   HONcode - Sandhoff disease - Genetics Home Reference ghr.nlm.nih.gov 2 Sandhoff Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS) www.ninds.nih.gov 4 HONcode - Orphanet: Sandhoff disease www.orpha.net 2 rare-diseases — National Organization for Rare Disorders www.rarediseases.org   See also: - beta-N-Acetylhexosaminidase Broader term(s): - Gangliosidoses, GM2 - Gangliosidoses - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases Browse - New search       Medical image(s) for "Sandhoff Disease" 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 "Sandhoff Disease" No results for this term. More health news Broader term(s): - Nervous System Diseases Browse - New search       Scientific articles from MEDLINE for "Sandhoff Disease"   - 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 "Sandhoff Disease" ClinicalTrials.gov - Linking patients to medical research Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) A Phase I Study of Pyrimethamine in Patients With GM-2 Gangliosidosis Stem Cell Transplant for Inborn Errors of Metabolism Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses HSCT for High Risk Inherited Inborn Errors ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases   More results Broader term(s): - Gangliosidoses, GM2 - Gangliosidoses - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases Browse - New search       Medical Conferences/Events for "Sandhoff Disease" No results for this term. Consult HON's world-wide database of medical meetings Browse - New search       Refine the search for  "Sandhoff Disease" 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                               Sphingolipidoses                                   Gangliosidoses                                       Gangliosidoses, GM2                        Lipid Metabolism, Inborn Errors                           Lipidoses                               Sphingolipidoses                                   Gangliosidoses                                       Gangliosidoses, GM2                        Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses                                   Gangliosidoses        Diseases           Nutritional and Metabolic Diseases               Metabolic Diseases                   Metabolism, Inborn Errors                       Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses                                   Gangliosidoses                                       Gangliosidoses, GM2                    Lipid Metabolism Disorders                       Lipidoses                           Sphingolipidoses                               Gangliosidoses                                   Gangliosidoses, GM2                    Brain Diseases, Metabolic                       Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses                                   Gangliosidoses        Diseases           Nutritional and Metabolic Diseases               Metabolic Diseases                   Brain Diseases, Metabolic                       Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses                                   Gangliosidoses                                       Gangliosidoses, GM2        Diseases           Congenital, Hereditary, and Neonatal Diseases and Abnormalities               Genetic Diseases, Inborn                   Metabolism, Inborn Errors                       Lysosomal Storage Diseases                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses                                   Gangliosidoses                                       Gangliosidoses, GM2                        Lipid Metabolism, Inborn Errors                           Lipidoses                               Sphingolipidoses                                   Gangliosidoses                                       Gangliosidoses, GM2                        Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses                                   Gangliosidoses        Diseases           Congenital, Hereditary, and Neonatal Diseases and Abnormalities               Genetic Diseases, Inborn                   Metabolism, Inborn Errors                       Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses                                   Gangliosidoses                                       Gangliosidoses, GM2        Diseases           Nervous System Diseases               Central Nervous System Diseases                   Brain Diseases                       Brain Diseases, Metabolic                           Brain Diseases, Metabolic, Inborn                               Lysosomal Storage Diseases, Nervous System                                   Sphingolipidoses                                       Gangliosidoses                                            Gangliosidoses, GM2  MeSH 2010 © U.S. National Library of Medicine®. 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