Note: All Day with the Experts presentations are recorded and archived. [waisman.wisc.edu]

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]

• Movement Disorder

  Showing of 20 Medical Terms Other Names Learn More: HPO ID 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 [rarediseases.info.nih.gov]

  Waisman syndrome 311510 early-onset parkinsonism and intellectual disability RAB39B in Childhood onset dystonia or chorea or related movement disorder Version 1.4 Signed off v.1.2 on 25 Feb 2020 review X-LINKED: hemizygous mutation in males, biallelic [panelapp.genomicsengland.co.uk]

• 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]

• Muscle Rigidity

  MalaCards based summary : Waisman Syndrome, also known as bgmr, is related to white sponge nevus 1 and pettigrew syndrome, and has symptoms including tremor, bradykinesia and muscle rigidity. [malacards.org]

• 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]

  […] parkinsonism-intellectual disability syndrome Disease definition A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly [orpha.net]

  Related phenotypes are macrocephaly and frontal bossing OMIM : 56 Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by Wilson [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]

• Strabismus

  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]

  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]

  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. [monarchinitiative.org]

• 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

  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. [malacards.org]

  bossing, persistent frontal lobe reflexes, strabismus and seizures. [medical-dictionary.thefreedictionary.com]

• Tremor

  MalaCards based summary : Waisman Syndrome, also known as bgmr, is related to white sponge nevus 1 and pettigrew syndrome, and has symptoms including tremor, bradykinesia and muscle rigidity. [malacards.org]

  (redirected from Waisman-Laxová syndrome) Parkinsonism, early onset with mental retardation An extremely rare (one cohort documented in the world literature) condition (OMIM:311510) characterised by early-onset parkinsonism (postural changes, tremor, [medical-dictionary.thefreedictionary.com]

  Orpha Number: 2379 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]

• Bradykinesia

  MalaCards based summary : Waisman Syndrome, also known as bgmr, is related to white sponge nevus 1 and pettigrew syndrome, and has symptoms including tremor, bradykinesia and muscle rigidity. [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]

• Speech Disorder

  disorder Speech impairment Speech impediment [ more ] 0002167 30%-79% of people have these symptoms Seizures Seizure 0001250 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 5%-29% of people have these symptoms Dementia Dementia, progressive [rarediseases.info.nih.gov]

  The goal of this research is to provide initial estimates of the prevalence of types of speech disorders and motor speech disorders in adolescents with DS. [tandfonline.com]

• Resting Tremor

  tremor Tremor at rest 0002322 Shuffling gait Shuffled walk 0002362 X-linked recessive inheritance 0001419 Showing of 20 Last updated: 3/1/2020 If you need medical advice, you can look for doctors or other healthcare professionals who have experience [rarediseases.info.nih.gov]

  Patients showed unilateral rest tremor and bradykinesia; one of them also displayed an early-onset postural tremor. [moh-it.pure.elsevier.com]

• Dysarthria

  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 Slow movements Slowness of movements [ more ] 0002067 Dysarthria [rarediseases.info.nih.gov]

  Among the five subtypes of dysarthria assessed by the Dysarthria Subtype Indices, ataxic dysarthria was significantly most prevalent, but there was support for mixed dysarthrias in over 50% of participants in the present study with CD or CD & CAS. [tandfonline.com]

(See Prognosis, Clinical, and Workup.) Patient education For patient education information, see the Lung Disease and Respiratory Health Center, as well as Croup. [emedicine.medscape.com]

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]

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]

(See Prognosis, Clinical, and Workup.) Patient education For patient education information, see the Lung Disease and Respiratory Health Center, as well as Croup. [emedicine.medscape.com]

Ferro JM 隐源性短暂性脑缺血发作和缺血性卒中的发生率，结局，危险因素和长期预后：一项以人群为基础的研究 Incidence, outcome, risk factors, and long-term prognosis of cryptogenic transient ischaemic attack and ischaemic stroke: a population-based study. [paper.medlive.cn]

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]

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]

Croup is the most common etiology for hoarseness, cough, and onset of acute stridor in febrile children. Symptoms of coryza may be absent, mild, or marked. [emedicine.medscape.com]

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]

A cause has not been elucidated, but a dominant mutation is postulated as the most likely etiologic possibility. To access this article, please choose from the options below [jpeds.com]

AB - Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families. [research.monash.edu]

Durkin, PhD Wisconsin SEED Wisconsin Surveillance of Autism and Other Developmental Disabilities Research Topics: Autism, Epidemiology Susan Ellis Weismer, PhD Language Processes Lab Research Topics: Autism, Speech & Language Development Peter A. [waisman.wisc.edu]

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]

A literature review of the epidemiology and treatment of acute gout. Clin Ther. 2003 Jun. 25(6):1593-617. [Medline]. Terkeltaub RA. Gout: Recent advances and emerging therapies. [medscape.com]

Clinical, epidemiological and therapeutic profile of patients with brachioradial pruritus in a reference service in dermatology. An Bras Dermatol, 2016, 91(4):549-551. [2] Mirzoyev SA, Davis MD. [derm.dxy.cn]

[…] 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]

Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions. Fugate JE,Rabinstein AA [评论]不明原因缺血性卒中 Ischaemic stroke of undetermined cause. [paper.medlive.cn]

These mechanisms of increased vascular permeability are involved in the pathophysiology of hypotension and pulmonary dysfunction in ARDS. [corona24.news]

Traditional power supply cords have become less important because they prevent large-scale utilization and mobility. [semanticscholar.org]

A small set of nucleotides (the building blocks of DNA) are repeated excessively, disrupting the structure of the gene and preventing the production of its normally encoded protein called FMRP. [waisman.wisc.edu]

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]