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Waisman Syndrome

BGMR


Presentation

  • This presentation will includes sources of decision-making support and skill building opportunities for youth and young adults.[dsaw.org]
  • […] extremely rare (one cohort documented in the world literature) condition (OMIM:311510) characterised by early-onset parkinsonism (postural changes, tremor, rigidity), defects of the basal ganglia, megalencephaly, mental retardation and other variably present[medical-dictionary.thefreedictionary.com]
  • Acronym WSMN Synonyms Basal ganglion disorder with mental retardation BGMR Parkinsonism, early-onset, with mental retardation WSN Keywords Any medical or genetic information present in this entry is provided for research, educational and informational[uniprot.org]
  • Acronym WSMN Synonyms Basal ganglion disorder with mental retardation BGMR Parkinsonism, early-onset, with mental retardation WSN Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational[uniprot.org]
Developmental Delay
  • delay 0001263 Lewy bodies 0100315 Megalencephaly 0001355 Parkinsonism 0001300 Poor speech 0002465 Resting tremor Tremor at rest 0002322 Shuffling gait Shuffled walk 0002362 X-linked recessive inheritance 0001419 Showing of 20 Last updated: 7/1/2019 If[rarediseases.info.nih.gov]
  • Family Membership is open to those affected by a Rare Chromosome Disorder or certain Autosomal Dominant Single Gene Disorders causing as a minimum learning disability/developmental delay, among other symptoms.[rarechromo.org]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • Where to go for the most accurate and up-to-date information on fragile X syndrome: ** American Academy of Family Physicians, News and Publications, Vol. 72/No. 1 (July 1, 2005) Mary Beth Langan and Sally Nantais are both Fragile X Syndrome carriers;[fragilexfiles.com]
Movement Disorder
  • Showing of 20 80%-99% of people have these symptoms Abnormality of movement Movement disorder Unusual movement [ more ] 0100022 Cogwheel rigidity 0002396 Frontal bossing 0002007 Intellectual disability Mental deficiency Mental retardation Mental retardation[rarediseases.info.nih.gov]
  • Shi CH, Zhang SY, Yang ZH, Yang J, Shang DD, Mao CY, Liu H, Hou HM, Shi MM, Wu J, Xu YM Movement disorders : official journal of the Movement Disorder Society31(12)1905-1909(2016 Dec) RAB39B gene mutations are not a common cause of Parkinson's disease[genscript.com]
Pathologist
  • Stanley, MD, FAAP Services provided: Behavioral MD Psychologist Nutritionist Physical Therapist Occupational Therapist Family Practitioner Apraxia Specialist Speech and Language Pathologist Audiologist Social Worker Education/Inclusion Specialist Nurse[globaldownsyndrome.org]
  • Other professionals may also provide evaluations and/or consultations including: a speech pathologist, an audiologist, a geneticist, a genetic counselor, a dietitian, an occupational therapist, a physical therapist, and social worker.[waisman.wisc.edu]
  • Bioinformatics Division, Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia. 10 Waisman Center, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA. 11 Office of the State Forensic Pathologist[ncbi.nlm.nih.gov]
  • Thal is a developmental psycholinguist and a certified and licensed speech-language pathologist who has conducted research in a number of areas, including normal and disordered development of language and cognition, children with focal brain injury, and[amazon.com]
Progressive Dementia
  • dementia [ more ] 0000726 Percent of people who have these symptoms is not available through HPO Bradykinesia Slow movements Slowness of movements [ more ] 0002067 Dysarthria Difficulty articulating speech 0001260 Dyskinesia Disorder of involuntary muscle[rarediseases.info.nih.gov]
Pharyngitis
  • Houri Vorperian, PhD, studies how the oral and pharyngeal anatomy affects speech in individuals with Down syndrome and other populations.[waisman.wisc.edu]
Macrocephaly
  • Source: JABL: A syndrome of macrocephaly, persistent frontal lobe reflexes, cogwheel rigidity, postural changes, parkinsonian tremors, and mental retardation with occasional strabismus and seizures. The syndrome was named after Dr.[linkedlifedata.com]
  • Related phenotypes are dementia and macrocephaly UniProtKB/Swiss-Prot : 76 Waisman syndrome: A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease.[malacards.org]
  • Abnormality of movement Movement disorder Unusual movement [ more ] 0100022 Cogwheel rigidity 0002396 Frontal bossing 0002007 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Macrocephaly[rarediseases.info.nih.gov]
Myopathy
  • […] extremely severe congenital myopathy and phenocopy myotubular myopathy Valérie Biancalana, Norma B.[nature.com]
  • Syndrome WBB001 WEDAS Weber Syndrome WBR001 Weill-Marchesani Syndrome WLL002 WMS Weill-Marchesani Syndrome 1 WLL036 WMS1 Weill-Marchesani Syndrome 2 WLL037 WMS2 Weill-Marchesani Syndrome 3 WLL038 WMS3 Weill-Marchesani Syndrome 4 WLL040 WMS4 Welander Distal Myopathy[malacards.org]
  • 158810 Ullrich congenital muscular dystrophy 254090 COL6A2 21q22.3 Myosclerosis, congenital 255600 Bethlem myopathy 158810 Ullrich congenital muscular dystrophy 254090 COL6A3 2q37.3 Bethlem myopathy 158810 Dystonia 27 616411 Ullrich congenital muscular[institutobernabeu.com]
Strabismus
  • Source: JABL: A syndrome of macrocephaly, persistent frontal lobe reflexes, cogwheel rigidity, postural changes, parkinsonian tremors, and mental retardation with occasional strabismus and seizures. The syndrome was named after Dr.[linkedlifedata.com]
  • OMIM:311510) characterised by early-onset parkinsonism (postural changes, tremor, rigidity), defects of the basal ganglia, megalencephaly, mental retardation and other variably present signs such as frontal bossing, persistent frontal lobe reflexes, strabismus[medical-dictionary.thefreedictionary.com]
  • Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.[orpha.net]
Frigidity
  • However, the extra time… Travelers Returning from Arizona Greeted With Frigid Temperatures FARGO, N.D. -- The frigid temperatures have been affecting flights across the country.[kvrr.com]
Frontal Bossing
  • bossing, persistent frontal lobe reflexes, strabismus and seizures.[medical-dictionary.thefreedictionary.com]
  • Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.[orpha.net]
Tremor
  • Orpha Number: 2379 Disease definition Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit.[rarediseases.info.nih.gov]
  • Source: JABL: A syndrome of macrocephaly, persistent frontal lobe reflexes, cogwheel rigidity, postural changes, parkinsonian tremors, and mental retardation with occasional strabismus and seizures. The syndrome was named after Dr.[linkedlifedata.com]
Bradykinesia
  • 311510) MalaCards based summary : Waisman Syndrome, also known as parkinsonism, early-onset, with mental retardation, is related to white sponge nevus 1 and early-onset parkinsonism-intellectual disability syndrome, and has symptoms including tremor, bradykinesia[malacards.org]
  • Seizure 0001250 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 5%-29% of people have these symptoms Dementia Dementia, progressive Progressive dementia [ more ] 0000726 Percent of people who have these symptoms is not available through HPO Bradykinesia[rarediseases.info.nih.gov]
Resting Tremor
  • tremor Tremor at rest 0002322 Shuffling gait Shuffled walk 0002362 X-linked recessive inheritance 0001419 Showing of 20 Last updated: 7/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience[rarediseases.info.nih.gov]
  • The patient with the RAB39B p.Trp186stop mutation had early disease onset (39 years) and typical parkinsonism with asymmetric rest tremor, an akineto-rigid syndrome, and a good response to levodopa.[ng.neurology.org]
Cogwheel Rigidity
  • Source: JABL: A syndrome of macrocephaly, persistent frontal lobe reflexes, cogwheel rigidity, postural changes, parkinsonian tremors, and mental retardation with occasional strabismus and seizures. The syndrome was named after Dr.[linkedlifedata.com]
  • Showing of 20 80%-99% of people have these symptoms Abnormality of movement Movement disorder Unusual movement [ more ] 0100022 Cogwheel rigidity 0002396 Frontal bossing 0002007 Intellectual disability Mental deficiency Mental retardation Mental retardation[rarediseases.info.nih.gov]
Shuffling Gait
  • gait Shuffled walk 0002362 X-linked recessive inheritance 0001419 Showing of 20 Last updated: 7/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.[rarediseases.info.nih.gov]

Workup

  • CC and NH were involved in executing the clinical workup and AT in managing the database of clinical information. JH, CM, and PZ directly contributed to the data interpretation. All authors were involved in the preparation of this manuscript.[molecularautism.biomedcentral.com]
Amyloid Plaque
  • These amyloid plaques can begin to develop in the brain many years before any memory loss occurs. Until this time, determining the presence of amyloid plaques in the brain could only be analyzed through autopsy.[www2.waisman.wisc.edu]

Treatment

  • By investigating Rett syndrome at a cellular level, Chang hopes to show how Rett syndrome occurs and to screen drugs for the possible treatment of Rett syndrome.[waisman.wisc.edu]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Waisman Center investigators Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD, were awarded an 750,000 grant, over three years, from the John Merck Fund to explore a new treatment for fragile X syndrome (FXS) using gene …[waisman.wisc.edu]

Prognosis

  • Other factors of the syndrome are revealed with time. [4] Prognosis When visceral or metabolic changes (diabetes) are present, the prognosis can be serious.[emedicine.medscape.com]
  • Febrile Seizures: treatment and prognosis. Epilepsia 2000; 41:2-9. Dreifuss FE, Rosman NP, Cloyd JC, dkk. A Comparison of rectal diazepam gel and placebo for acute repetitive seizures. N Engl J Med 1998 ; 338:1869-75.[saripediatri.org]
  • Prognosis Most patients with BWS have a normal life expectancy and generally do not develop serious medical problems in adulthood as a result of the condition.[emedicine.medscape.com]
  • Prognosis CHS patients usually die in their first decade of life, from chronic infections or accelerated disease. However, some mildly affected children have survived longer.[atlasgeneticsoncology.org]
  • Infant morbidity and mortality rates range from 10 to 60 percent, depending on the severity of maternal disease. 3 Infants affected by HELLP syndrome are more likely to experience intrauterine growth retardation and respiratory distress syndrome. 27 Prognosis[aafp.org]

Etiology

  • Xinyu Zhao, PhD studies neurodevelopmental disorders that are highly heterogeneous constellation of disorders, both in terms of etiology and clinical manifestations.Using neural stem cells as model systems, Zhao investigates the molecular mechanisms that[waisman.wisc.edu]
  • Takes approximately 5 minutes Target Population: Adolescents and adults with intellectual or developmental disabilities (including autism, Down syndrome, fragile X syndrome, and intellectual disability of unknown etiology).[disabilitymeasures.org]
  • RAB39B have been reported as a potential cause of X-linked Parkinson's disease (PD), a rare form of… (More) Lamei Yuan , Xiong Deng , 4 authors Hao Deng Neurobiology of Aging 2015 Parkinson's disease (PD) is a common neurodegenerative disorder of complex etiology[semanticscholar.org]
  • Abstract Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families.[research-repository.griffith.edu.au]
  • AB - Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families.[research.monash.edu]

Epidemiology

  • SNPs for GABRQ No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GABRQ Gene Relevant External Links for GABRQ Genetic Association Database (GAD) GABRQ Human Genome Epidemiology[genecards.org]
  • […] heterozygous loss-of-function mutation in the LEMD3 (LEM domain containing 3) gene (locus 12q14.3) for an inner nuclear membrane protein has been identified in patients with osteopoikilosis with or without Buschke-Ollendorff syndrome. [5, 11, 12, 13, 14] Epidemiology[emedicine.medscape.com]
  • An epidemiological study. S Afr Med J. 1985;68:927-9 3. Conde-3. Agudelo A, Kafury-Goeta AC. Epidemiology of eclampsia in Colombia. Int J Gynaecol Obstet. 1998;61:1-8. 4. Tuffnell DJ, Jankowicz D, Lindow SW, Lyons G, Mason GC, Russell IF, Walker JJ.[bjmp.org]
  • Epidemiology of interstitial cystitis. Urol Clin North Am 1994;21:7–20. 100 Nickel JC, Barkin J, Forrest J et al. Randomized, double blind, dose-ranging study of pentosan polysulfate sodium for interstitial cystitis.[glowm.com]
  • Epidemiology Frequency Incidence is estimated to occur in 1 in 10,500 live births in the general population. [6] As individuals with milder phenotypes often go undiagnosed, the incidence may be higher.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • […] supporting the solar hypothesis Many patients with brachioradial pruritus have a history of chronic sun exposure. [2, 14, 15] Kestenbaum and Kalivas [16] postulated that histamine release from mast cells in response to chronic sun exposure might play a pathophysiologic[emedicine.medscape.com]
  • Pathophysiology In the presence of 10% calf serum, cultured fibroblasts of patients with Buschke-Ollendorff syndrome produce 2-8 times more tropoelastin than fibroblasts of healthy individuals.[emedicine.medscape.com]
  • Presentation of BWS occurs on a spectrum ranging from isolated asymmetry to classic features of BWS. [1] Pathophysiology Beckwith-Wiedemann Syndrome (BWS) is a pediatric cancer predisposition disorder caused by changes in the imprinted gene loci on chromosome[emedicine.medscape.com]
  • .: Pathologic anatomy and pathophysiology of the Zollinger-Ellison-syndrome. In: Non-Insulin-producing tumours of the pancreas. eds. Demling, L., Ottenjann, R. Stuttgart: Thieme 1969 Google Scholar Bretholz, A., Steiner, H.: Les insulomes.[link.springer.com]
  • There may be some difference in the pathophysiology of these two disease types.[bjmp.org]

Prevention

  • The project is funded by the Centers for Disease Control and Prevention (CDC) and housed at the University of Wisconsin-Madison, School of Medicine and Public Health.[nofas.org]
  • Exploring the range of disabilities, the Waisman Center community has helped gather new knowledge on the basic biology, developmental course, prevention, treatment and social context of a highly complex set of human conditions.[wisconsintechnologycouncil.com]
  • A controlled trial of diazepam administered during febrile illnesses to prevent recurrence of febrile seizures. N Engl J Med 1993; 329:79-84 Greenwood RS, Tennison M. When to start and stop anticonvulsant therapy in children.[saripediatri.org]
  • Primary, secondary, and tertiary prevention of pre-eclampsia. Lancet 2001;357:209–15. 18. Hofmeyr GJ, Lawrie TA, Atallah AN, Duley L. Calcium supplementation during pregnancy for preventing hypertensive disorders and related problems.[bjmp.org]

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