Marinesco-Sjogren, Syndrome De Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/FR/marinescosjogren.html
Extractions: Le syndrome de Marinesco-Sjögren appartient au groupe des ataxies cérébelleuses autosomiques récessives . La maladie survient dans l'enfance. Les signes cardinaux sont une ataxie cérébelleuse, une cataracte congénitale, un retard psycho-moteur. Dysarthrie, nystagmus, faiblesse musculaire et hypotonie sont des symptômes fréquents. L'aréflexie est associée à une neuropathie périphérique démyelinisante. Certains patients présentent des épisodes de rhabdomyolyse avec des augmentations soutenues ou épisodiques de créatine kinase sérique. Un hypogonadisme hypergonadotrophique est fréquemment retrouvé. L'anomalie musculaire consiste en des troubles myopathiques avec des vacuoles bordées. Une atrophie cérébelleuse corticale avec dégénérescence des cellules de Purkinje est aussi présente. Il a été suggéré que le syndrome de Marinesco-Sjögren avec myoglobinurie et la cataracte congénitale, dysmorphie faciale et neuropathie (CCFDN) sont génétiquement identiques car ils sont tous les deux liés au chromosome 18qter. Cependant dans la forme classique du syndrome de Marinesco-Sjögren, un locus a été récemment localisé sur le chromosome 5q31.*Auteur : Dr F. Palau (septembre 2003)*. Signes de la maladie ATAXIE / INCOORDINATION CATARACTE HYPOTONIE MOUVEMENTS ANORMAUX PETITE TAILLE / NANISME RETARD MENTAL SEVERE RETARD PUBERTAIRE/HYPOGONADISME TRANSMISSION AUTOSOMIQUE RECESSIVE CONVULSIONS EPILEPSIE CYPHOSE DIPLEGIE/PARAPLEGIE/QUADRIPLEGIE
Marinesco Sjogren Syndrome Marinesco Sjogren syndrome (MSS) is a rare disorder that is inherited as anautosomal recessive genetic http://my.webmd.com/hw/health_guide_atoz/nord868.asp
Extractions: Marinesco-Sjogren syndrome (MSS) is a rare disorder that is inherited as an autosomal recessive genetic condition. The major features of this disorder are a loss of muscle coordination as a result of an affect on the cerebellum (cerebellar ataxia), cloudiness of the eyes' lenses (cataracts), increased muscle tension (spasticity), progressive muscle weakness, short stature, and mental deficits.
Neurol India: Table Of Contents Marinesco Sjogren syndrome a case report. p. 28. Surekha RK, Panagaria A, SharmaD. BRIEF Full text not available. Primary melanoma of the pineal gland. http://www.neurologyindia.com/showBackIssue.asp?issn=0028-3886;year=1997;volume=
Marinesco Sjogren Syndrome: A Case Report. Surekha RK; Panagaria A; Sharma D. Department of Neurolgy, SMS Medical College,Jaipur, India. Marinesco Sjogren syndrome a case report. Neurology India. http://medind.nic.in/imvw/imvw10178.html
Extractions: Extracted from IndMED Surekha RK; Panagaria A; Sharma D Department of Neurolgy, SMS Medical College, Jaipur, India. Marinesco Sjogren syndrome: a case report. Neurology India. 1997 Mar; 45(1): 28-30 ABSTRACT: Three members of one family suffering from Marinesco Sjogren syndrome are being reported. All the three cases had mental retardation, congenital bilateral cataracts and cerebellar ataxia. It is a rare autosomal recessive disorder. KEYWORDS: Spinocerebellar Degeneration/GE; Spinocerebellar Degeneration/CN; Mental Retardation/GE; Cataract/GE; Cerebellar Ataxia/GE; Case Report; Human; Male; Female; Adult Record Identifier: NM000387
Canadian Directory Of Genetic Support Groups Marinesco Sjogren syndrome Support Group (Marinesco Sjogren syndromeMSS)Melnick-Needles syndrome Support Group (Melnick-Needles syndrome) http://www.lhsc.on.ca/programs/medgenet/m_sup.htm
Aniridia not been reported previously, although cerebellar ataxia mental deficiencyand congenital cataracts are known in the Marinesco Sjogren syndrome. http://ibis-birthdefects.org/start/aniridia.htm
Extractions: Shaw et al. (1960) ascertained 176 cases of aniridia in the lower Michigan peninsula ... mutation rate about 4 x 10(-6) per gamete per generation. Affected persons may be visually handicapped because of nystagmus, cataract or glaucoma ... Undoubtedly more than one "cause" of aniridia exists ... Gove et al. (1961) identified 77 cases of aniridia descended from an affected woman born in 1824 ... Delleman and Winkelman (1973) emphasized that atypical colobomata and slitlike defects of the iris stroma may be partial expressions of aniridia ... a fourth type associated with Wilms tumor, genital abnormalities, and deletion of 11p13 ( WAGR syndrome ) ...
Progressive Cerebellar Syndromes The differential diagnosis of a progressive cerebellar syndrome includes vitamin E neuroaxonal dystrophy, HallevordenSpatz, Marinesco Sjogren syndrome, http://www.bme.jhu.edu/labs/chb/disorders/cerebell.html
Extractions: The differential diagnosis of a progressive cerebellar syndrome includes vitamin E deficiency, lipoprotein disorders , neurocanthocytosis, Wilson disease MLD hexosaminidase deficiency , aminoacidurias including Hartnup disease , cerebrotendinous xanthomatosis, mitochondrial cytopathies, giant axonal neuropathy, hemochromatosis, adrenoleukodystrophy, Krabbe disease , Whipples disease, demyelinating disease, Behcets, progressive multifocal leukoencephalopathy, vasculitides, biotinidase deficiency, sphingomyelinase deficiency, neuroaxonal dystrophy, Hallevorden-Spatz, Marinesco Sjogren syndrome, Huntingtons disease, Creutzfeld-Jakob and GSS disease, inflammatory spinocerebellar degeneration, GAPN syndrome(antiMAG), thyroid disease, Chediak-Higashi , ataxia telangiectasia, superficial siderosis, heavy metal intoxications, drug (eg. Lithium and Dilantin) intoxication, nutritional, paraneoplastic and familial cerebellar degenerations (including Freidrichs, Joseph disease and other OPCAs including multiple system atrophy) and structural lesions including posterior fossa cysts, tumors, and vascular malformation; craniocervical junction anomalies, occasionally lesions in the frontal lobes or in the cervical spinal cord, and hydrocephalus.
A Listing Of Disorders Marden Walker syndrome. Marfan syndrome. Marinesco Sjogren syndrome. Maroteaux Lamysyndrome. Marshall Smith syndrome. Marshall syndrome. MASA syndrome http://medschool.umaryland.edu/BTBank/Family/Disorders_M.htm
Extractions: University of Maryland, Baltimore M Macular Degeneration Macular Degeneration, Polymorphic Madelung's Disease Maffucci Syndrome Malignant Hyperthermia Mannosidosis Maple Syrup Urine Disease Marden Walker Syndrome Marfan Syndrome Marinesco Sjogren Syndrome Maroteaux Lamy Syndrome Marshall Smith Syndrome Marshall Syndrome MASA Syndrome Mastocytosis Maxillofacial Dysostosis Maxillonasal Dysplasia, Binder Type May Hegglin Anomaly McArdle Disease McCune Albright Syndrome McKusick Type Metaphyseal Chondrodysplasia Meckel Syndrome Medium Chain Acyl CoA Dehydrogenase Deficiency Medullary Cystic Disease Medullary Sponge Kidney Megalocornea Mental Retardation Syndrome Meige Syndrome MELAS Syndrome Meleda Disease Melkersson Rosenthal Syndrome Melnick Needles Syndrome Meniere Disease Meningioma Menkes Disease MERRF Syndrome Mesenteritis, Retractile Metatropic Dysplasia I Microcephaly Microvillus Inclusion Disease Mikulicz Syndrome Miller Syndrome Mitral Valve Prolapse Syndrome Mixed Connective Tissue Disease (MCTD) Moebius Syndrome Monilethrix Morquio Syndrome Motor Neuron Disease Moyamoya Disease Mucha Habermann Disease Mucolipidosis IV Mucopolysaccharidosis Mulibrey Nanism Syndrome (Perheentupa Syndrome) Mullerian Aplasia Multiple Sclerosis Multiple Sulfatase Deficiency Mulvihill Smith Syndrome MURCS Association Muscular Dystrophy, Becker
Planktonitis Fat Gene Discovered Those patients who have both CMRD and Marinesco Sjogren syndrome, have theneuromuscular problem because they do not have the Sar1b protein at all. http://www.planktonitis.com/Planktonitis-fatgene.htm
Extractions: 'Fat gene' discovery Scientist have discovered a gene that makes people more likely to absorb fat. They were looking at why some people are more prone to diseases linked to excessive consumption of fat. But they say it may help understand how too much fat can lead to obesity, diabetes, high blood fat levels and heart attacks. It may and aid the development of new treatments. Mutations: An international team of researchers looked at the genetic causes of severe fat malabsorption in three rare diseases, chylomicron retention disease (CMRD), Anderson Disease and CMRD with Marinesco Sjogren syndrome, a neuromuscular disorder. This opens up exciting new avenues for understanding of the origins of obesity Professor James Scott, Imperial College. The genetic mutations in the three disorders mean that a protein called Sar1b, which is required for all dietary fat absorption, cannot work properly. Scientists from Imperial College London and the Hammersmith Hospital studied families from across the world and found all those affected by the three disorders had the same genetic mutation. Imperial College researchers then showed how the mutations caused CMRD and Anderson Disease, preventing a specific activity of Sar1b. Those patients who have both CMRD and Marinesco Sjogren syndrome, have the neuromuscular problem because they do not have the Sar1b protein at all. Cholesterol Dr Carol Shoulders, of the Medical Research Council Clinical Sciences Centre at Imperial, said: "Further studies will focus on whether people with genetic variations in Sar1b absorb more dietary fat, and are therefore more prone to those diseases associated with excessive consumption of fat.
Children Living With Inherited Marinesco Sjogren syndrome. MSS. Mastocytosis. Mast Cell Disease. Utricaria Pigmentosa.McCune Albright syndrome. Polyostotic Fibrous Dysplasia http://www.climb.org.uk/Disorders/Mike.htm
Extractions: Search Our Site C hildren L iving with I nherited M eta b olic Diseases Metabolic Diseases 'M' The National Information and Advice Centre for Metabolic Diseases Disease Also Known as Madelungs Disease Magnesium-Losing kidney Maleyacetoacetate Isomerase Deficiency Malonic Aciduria Malonyl CoA Decarboxylase Deficiency Mandibuloacral Dysplasia Mannosidosis (Alpha) Mannosidosis (Beta) Maple Syrup Disease MSD Marfan Syndrome Marinesco Sjogren Syndrome MSS Mastocytosis Mast Cell Disease Utricaria Pigmentosa McCune Albright Syndrome Polyostotic Fibrous Dysplasia McKusick Kaufman Medium Chain 3 Ketoacyl CoA Thiolase Deficiency Medium Chain Acyl CoA Dehydrogenase Deficiency MCAD Melorheostosis Menkes Disease Metabolic Acidosis Membrane Inhibitor of Reactive Lysis MIRL Metachromatic Leukodystrophy - Adult Metachromatic Leukodystrophy - Infantile Metachromatic Leukodystrophy Juvenile Methemoglobinaemia Methionine Adenosyltransferase Deficiency Hypermethioninaemia S-Adenosylhomocysteine Hydrolase Deficiency Methionine Synthase Deficiency Methylacyl-CoA Racemase Deficiency (2) Methyl-Cobalamin Deficiency Methylcrotonyl CoA Carboxylase Deficiency (3) Methylcrotonyl Glycinuria (3) Methylene Tetrahydrofolate Reductase Deficiency Methylglutaconic Aciduria (3) Type 1 Methylglutaconic Aciduria (3) Type 2 Barth Syndrome Methylglutaconic Aciduria (3) Type 3 Methylglutaconic Aciduria (3) Type 4 Methylmalonic Acidaemia MMA Methylmalonic Acidaemia and Homocystinuria Cobalamin C Disease Cobalamin D Disease
13 April 2003 Disease and CMRD with the neuromuscular disorder Marinesco Sjogren syndrome . in association with Marinesco Sjogren syndrome, have the more serious http://www.mrc.ac.uk/index/public-interest/public-news_centre/public-press_offic
Extractions: News centre Press releases Press releases 2003 18 December 2003 ... 23 April 2003 13 April 2003 10 April 2003 08 April 2003 07 April 2003 25 March 2003 ... Press releases 2003 : 13 April 2003 SCIENTISTS FIND GENE WHICH CONTROLS DIETARY FAT Published online today in Nature Genetics the work, funded by the Medical Research Council and the British Heart Foundation, report the genetic cause of severe fat malabsorbtion in three diseases, chylomicron retention disease (CMRD), Anderson Disease and CMRD with the neuromuscular disorder Marinesco Sjogren syndrome. END About MRC Public Interest Funding Current Research ... Search
Information Center For Rare Diseases And Orphan Drugs - Sections marinesco sjogren like syndrome marinesco sjogren syndrome marion mayers syndromemarkel vikkula mulliken syndrome marles greenberg persaud syndrome http://www.raredis.org/modules/sections/index.php?op=viewarticle&artid=27
Birth Disorder Information Directory - J Jabs Houk Bias syndrome (Blau syndrome, Blau Type Arthrocutaneouveal Granulomatosis, Myopathy and Mental Retardation (Marinesco Sjogren Like syndrome) http://www.bdid.com/defectj.htm
Extractions: HOME Jabs Houk Bias Syndrome (Blau Syndrome, Blau Type Arthrocutaneouveal Granulomatosis, Synovitis Granulomatous Uveitis Cranial Neuropathies) Jackson Barr Syndrome (Deafness Conductive Ptosis Skeletal Anomalies) Jackson Weiss Syndrome (Craniosynostosis Midfacial Hypoplasia Foot Abnormalities; Acrocephalosyndactyly, Jackson Weiss Type) Jacobs Syndrome Jacobsen Syndrome (JBS; Deletion/Distal/Monosomy 11q[-] (Syndrome, Partial); Partial Monosomy of Long Arm of Chromosome 11) Jadassohn Lewandowsky Syndrome (Circumscribed Disseminated Keratosis Jadassohn Lewandowsky Type, Pachyonychia Congenita with Natal Teeth [Type I]) Jadassohn Nevus Phakomatosis Jaffe Campanacci Syndrome (Fibromatosis Multiple Non Ossifying) Jaffer Beighton Syndrome (Marfanoid Build Spondylolisthesis Constricted Pelvis) Jagell Holmgren Hofer Syndrome (Ichthyosis Alopecia Eclabion Ectropion Mental Retardation) jagell holmgren hofer syndrome ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION
Birth Disorder Information Directory - M Marinesco Sjogren Like syndrome (Juvenile Cataract with Cerebellar Atrophy,Myopathy and Mental Retardation). Related Books juvenile cataract cerebellar http://www.bdid.com/defectm.htm
Extractions: HOME Machado Joseph Disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar Atrophy, Pierre Marie Cerebellar Ataxia) Macrencephaly Macrocephaly Macrodactyly/Megalodactyly Macroglossia Macrogyria Macular Dystrophy Macules Madelung's Deformity Majewski Syndrome Mal de Meleda Male Pseudohermaphroditism Due to Androgen Insensitivity Male Turner Syndrome Malignant Hyperthermia See Hyperthermia, Malignant
Maladies Rares, Maladies Orphelines Marinesco Sjogren syndrome Maroteaux Lamy syndrome Marshall Smith syndrome Marshallsyndrome MASA syndrome Mastocytosis Maxillofacial Dysostosis http://www.fmo.easynetonline.net/anciensite/listnord.html
Professor Soltanzadeh Marinesco Sjogren syndrome. 90 - 100 ? 20. 4- Norwood, FW The Marinesco -Sjogren syndrome. J. Pediat. 65 431, http://www.professorsoltanzadeh.com/fa-maghale14.htm
Genetic Conditions / Rare Conditions Information Site Lay advocacy groups, support groups, information on genetic conditions and birthdefects for professionals, educators and individuals. Disorders from AZ. http://www.kumc.edu/gec/support/
