Taryn's Club Med: The Whole Kaboodle Mark and Adam Robert s Road to Recovery; marinescosjogren syndrome About Kimberly;morquio syndrome Home Page de Josuezinho e Isaque http://www.tarynsworld.org/taryn/clubmed-all.htm
Extractions: Summary: Two patients with Marinesco-Sjogren syndrome had striking orthopaedic abnormalities that seemed to arise from multiple areas of physeal growth arrest. Major involvement was seen in the distal femora, where bilateral hypoplasia of the lateral condyles resulted in progressive valgus, patellar dislocation, and quadriceps dysfunction. Marinesco-Sjogren syndrome seems to arise from an error in lysosomal handling of lipids. Timely orthopaedic intervention may be helpful in prolonging ambulation in these patients.
MUMS List Of Disorders - M MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) *; Macrocephaly (largehead) marinescosjogren syndrome (1) www.marinesco-sjogren.org http://www.netnet.net/mums/mum_m.htm
Extractions: indicates there is a support group which covers that diagnosis. MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) * Macrocephaly (large head) (29) http://www.macrocephaly-cmtc.com/ Macrodactyly (Large toes or fingers) (2) Macroglossia (6) Macrosomia (abnormally large body) (2) Macular Degeneration (4) * Macular Degeneration (Infantile) * Male Pseudohermaphroditism (2) * Malignant Atrophic Papulosis(Degos disease) www.degosdisease.com Malignant Hyperthermia (12) * Malrotation of the Intestines (31) Mandibuloacral Dysplasia(Craniomandibular Dermatodysostis) (3) Manic Depression, Bipolar (64) * Manic Depressive Schizophrenia (19) * Mannosidosis (Glycogen Storage) (4)** Maple Syrup Urine Disease (7) * Marcus Gunn Phenomenon (Jaw Winking) (3) Marden-Walker Syndrome (7) Marfan Syndrome (12) * Marinesco-Sjogren Syndrome (1) www.marinesco-sjogren.org Marshall-Smith Syndrome (1) Mast Cell Disease (Urticaria Pigmentosa) (9) Mastocytosis (Urticaria Pigmentosa) (9) www.mastokids.org
Links marinescosjogren syndrome Support Group. www.marinesco-sjogren.org. Meniere ssupport Group of NSW Inc. emailnswmsg@hinet.net.au http://www.agsa-geneticsupport.org.au/links.html
Extractions: AboutFace AIS Support Groups Network (i.e.Androgen Insensitivity syndrome) http://www.vicnet.net.au/~aissg email: aissg@primus.com.au American Liver Society www.liversociety.org Angelman Syndrome Association email: simonek@angelmansyndrome.org www.angelmansyndrome.org Aniridia Network P O Box 6444 Colchester CO 3XU UK hannah@aniridia-network.net Aussie F.O.L.K.S. The Australian Landau Kleffner Association email: kaprice@tpg.com.au www.angelfire.com/hi5/aussiefolks/ email: harry@partridge.com.au www.battens.org.au Aust. Chrohn's and Colitis Association (ACCA) Freecall 1800 138 029 email: info@acca.net.au www.acca.net.au Australasian Genetic Alliance (AGA) Secretariat email: info@geneticsupprotcouncil.org.au http://geneticsupportcouncil.org.au Aust.Huntington's Disease Ass.(NSW) Inc. email: enquiries@ahdansw.asn.au www.ahdansw.asn.au Australian Leukodystrophy Support Group email: leuko@vicnet.net.au http://avoca.vicnet.net.au~leuko/ or email: leukodystrophy.info@nzord.org.nz
UNSW Embryology-OMIM Scoliosis List *248800 marinescosjogren syndrome; MSS *249310 MEGALOCORNEA-MENTAL RETARDATIONSYNDROME 147060 IMMUNOGLOBULIN E, ELEVATED, WITH NEUTROPHIL CHEMOTAXIS http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-scoliosis_list.htm
Select Entries From OMIM Online Mendelian Inheritance In Man *248800 marinescosjogren syndrome; MSS *115650 CATARACT, ANTERIOR POLAR, 1;CTAA1 *302350 CATARACT-DENTAL SYNDROME 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS http://embryology.med.unsw.edu.au/OMIMfind/eye/congen_cataract.htm
Geneticalliance.org Conditions Served marinescosjogren syndrome. Maryland Patient Advocacy GroupConditions Served. Massachusetts Down Syndrome Congress http://www.geneticalliance.org/ws_display.asp?filter=diseases_support_groups&key
Penn State Faculty Research Expertise Database (FRED) marinescosjogren syndrome, Spinocerebellar Degeneration. Early Onset CerebellarAtaxia Maries Cerebellar Ataxia, Marinesco Sjogren Syndrome http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D013132
Marinesco-Sjögren Syndrome MR Imaging Features in marinescosjogren syndrome Severe Cerebellar Atrophy IsNot an Obligatory Finding Linkage to 18qter differentiates two clinically http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=504
List Of Diseases Starting With M: Information From Answers.com Marie type ataxia; Marie Unna congenital hypotrichosis; Marinesco Sjogren likesyndrome; marinescosjogren syndrome; Marion Mayers syndrome http://www.answers.com/topic/list-of-diseases-starting-with-m
Extractions: showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with M Wikipedia List of diseases starting with M A list of diseases in the English wikipedia. A B C D ... L M N O P Q ... Z Macular corneal dystrophy Macular degeneration juvenile Macular degeneration, age-related
DrScore :: Improving Patient Care marinescosjogren syndrome Myasthenia Gravis Foundation of America, Inc. back to top. marinesco-sjogren syndrome. www.marinesco-sjogren.org http://www.drscore.com/advocacy/list.cfm
Extractions: Patient Advocacy Groups One of the best ways patients can learn more about medical conditions and illnesses is through patient advocacy groups. Patient advocacy groups provide a wealth of information, services and support. We encourage you to use and support these organizations. They exist to serve you-the patient-and are key to the research of new and improved treatments, and ultimately a cure, for many diseases. PATIENT ADVOCACY GROUPS
Extractions: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Merlini, L. Articles by Kalaydjieva, L. Related Collections Peripheral neuropathy American Academy of Neurology L. Merlini, MD R. Gooding, BSci M.C. Walter, MD D. Angelicheva, PhD B. Talim, MD J. Hallmayer, MD and L. Kalaydjieva, MD PhD Address correspondence and reprint requests to Dr. Luba Kalaydjieva, Center for Human Genetics, Edith Cowan University, Perth, WA 6027, Australia; e-mail: Objective and Background: To describe three Gypsy families with and recurrent episodes of myoglobinuria in five of the six affected subjects. Because these families originated from the same genetically isolated founder population as did patients with congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome, and
Neurology -- Sign In Page MR imaging features in MarinescoSjögren syndrome severe cerebellar atrophy is not Marinesco-Sjögren syndrome clinical and magnetic resonance imaging http://www.neurology.org/cgi/content/full/63/12/2448
Extractions: This Article Figures Only Full Text (PDF) Correspondence: ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Harting, I. Articles by Ebinger, F. Related Collections All Imaging
The Kuwait Medical Genetics Centre Joubert s syndrome, SmithLemli-Opitz syndrome, Sjogren-Larsen syndrome,marinesco-sjogren syndrome, Troyer- like syndrome, and cutis vertices gyrate. http://www.safat.com/kgc.html
Extractions: The accurate diagnosis of rare monogenic diseases. Investigating cases of congenital malformations. Providing genetic counselling for families with genetic disorders e.g. cases of male/female primary infertility, recurrent pregnancy loss, congenital malformations, structural/numerical chromosomal abnormalities, genetic forms of mental retardation, f amilial visual disorders and pre-marital counselling. Exploring the possible means of reducing neonatal mortality and physical disability. Providing training programmes for doctors and technical staff in the area of genetic counselling. The KMGC represents an independent entity located in the Maternity Hospital, and is affiliated to the Ministry of Health. The service is provided to a population size of 1.575.983 persons, including 655.820 (41.6%) Kuwaiti citizens and 920.163 (58.4%) non -Kuwaiti residents, mostly of Arab nationalities. The service is provided in liaison with departments of different specialities in satellite Genetics clinics attached to 5 regional hospitals including: Sabah and Ameri Hospital (serving 192.800 persons)
SEMERC: Information Services: Glossary: M marinescosjogren syndrome. Features include mild to moderate growth deficiency,cerebellar ataxia, muscular weakness and/or lax muscle tone, eye defects, http://www.semerc.com/information_services/a_z/m.asp
Extractions: Search our online shop A B C D ... Z An abnormally large head. An abnormally large tongue. (See Beckwith-Weidemann Syndrome) Abnormally deep or wide folds (gyri) on the surface of the brain. Large testicles. A large body. An abnormally large opening between the lips, due to a cleftlike extension of the corners of the mouth. Pertaining to the cheek or cheekbones. The cheekbones. (See Disease) A form of sign language, originally developed for use with people with hearing loss, now widely used as an aid to communication for non-verbalising children and adults. Poor closure of the mouth because of faulty alignment of the teeth. The lower jaw bone.
Baylor Neurology Case Of The Month maple syrup urine disease, marinescosjogren syndrome, Refsum disease, Friedreich originally described this syndrome in 9 members of 3 sibships with http://www.bcm.edu/neurology/challeng/pat25/summary.html
Extractions: Diagnosis: Friedreich's Ataxia Patient #25 presented with progressive gait and limb ataxia, mild distal symmetrical sensory loss, dimished deep tendon reflexes, weakness of the gluteal muscles, and bilateral extensor plantar responses. These findings indicate cerebellar, peripheral nerve (or dorsal root ganglion), and corticospinal involvement and imply a multisystem degenerative disease. There was no evidence of autonomic dysfunction, and eye movements were left unaffected. Extrapyramidal involvement was not present arguing against one of the Multi-System Atrophies (MSAs), such as olivopontocerebellar atrophy (OPCA). The most salient feature in this case is the patient's marked progressive ataxia. Ataxia may be due either to cerebellar or proprioceptive dysfunction, though it is rarely difficult to distinguish the two. However, when both are present, diagnostic difficulties arise. The findings in this case - gait and limb ataxia, titubation, loss of check response, and dysdiadochokinesia - point to an abnormality in the cerebellar system. This patient also had evidence of a peripheral neuropathy with involvement of the posterior columns evidenced by decreased position and vibratory sense. The degree of proprioceptive abnormality was not sufficient to explain the marked gait disturbance, however. While this patient exhibited dysfunction in both the cerebellar and proprioceptive systems, the cerebellar involvement was most impressive. The primary defect, therefore lies somewhere in the connections to, from, or within the cerebellum.
Extractions: The Canadian Movement Disorder Group Ataxia Ataxia is a term to describe loss of balance. The part of the brain that is involved in balance is at the back of the brain, attached to the brainstem, and is called the "Cerebellum". Damage to the cerebellum or its connections will result in unsteadiness of walking, and clumsiness of hand and foot coordination. Many conditions can cause the cerebellum to stop working normally. Cause of Ataxia include a huge number of conditions: Drug / Toxin induced cerebellar dysfunction: These include drugs; Clonazepam, Tegretol, Phenobarb, Primidone, Dilantin and toxins including; acute alcohol intoxication, alcoholism, solvent abuse , lead / mercury Trauma to the cerebellum Head Injury Endocrine Disorders (diseases of the glands that release hormones) Hypothyroidism Nutritional Deficiencies Vitamin B12 deficiency Neoplastic (Tumor) Paraneoplastic (Associated with a distant tumor) Vascular Causes (Stroke) These include; vasculitis (inflamation of blood vessels eg. Lupus), angioblastoma (a tumor of the blood vessels), embolism (a blood clot plugging a blood vessel), hemorrhage (a blood vessel rupturing and bleeding into the cerebellum), and Von-Hippel-Lindau Syndrome (a disorder of blood vessel formation)
SEC24A Gene Analysis In Marinesco-Sjogren Syndrome Translate this page SEC24A gene analysis in marinesco-sjogren syndrome. IC Cirò Candiano (1). D.Civitelli (1). EV De Marco (1). S. Carrideo (1). P. Tarantino (1). http://sigu.univr.it/sigu/congresso_2004/shortabstract/node365.html
