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318 Possible Causes for Dysdiadochokinesis, Mutation in the WWOX Gene, Well-Defined Eyebrows

  • Early Infantile Epileptic Encephalopathy Type 2

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] […] hypoplasia Abnormal pyramidal sign Dysmetria Hirsutism Brain atrophy Heterotopia Intrauterine growth retardation Truncal ataxia Intellectual disability, progressive Lissencephaly Dysdiadochokinesis[mendelian.co] The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.[disorders.eyes.arizona.edu]

  • Spinocerebellar Ataxia Type 12

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] MalaCards based summary : Spinocerebellar Ataxia 12, also known as sca12, is related to spinocerebellar ataxia 36 and aceruloplasminemia, and has symptoms including dysdiadochokinesis[malacards.org] […] size of the outer layer of the brain due to loss of brain cells 0002120 Delusions 0000746 Depressivity Depression 0000716 Dysarthria Difficulty articulating speech 0001260 Dysdiadochokinesis[rarediseases.info.nih.gov]

    Missing: Well-Defined Eyebrows
  • Autosomal Recessive Spinocerebellar Ataxia 8

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] […] hemisphere) Neocerebellum Connected with Pons and cortex through thalalmus Planning and initiation of movements Regulation of fine limb movements Limb ataxia: Dysmetria, Dysdiadochokinesis[slideshare.net] 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis[emedicine.medscape.com]

    Missing: Well-Defined Eyebrows
  • Multiple Sclerosis

    BACKGROUND: This review is an update of a previously published review, "Vitamin D for the management of multiple sclerosis" (published in the Cochrane Library; 2010, Issue 12). Multiple sclerosis (MS) is characterised by inflammation, demyelination, axonal or neuronal loss, and astrocytic gliosis in the central nervous[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the WWOX Gene Well-Defined Eyebrows
  • Spinocerebellar Ataxia Type 1

    Slow eye movements 0000514 Slurred speech 0001350 Staring gaze 0025401 Upgaze palsy 0025331 5%-29% of people have these symptoms Abnormality of masticatory muscle 0410011 Dysdiadochokinesis[rarediseases.info.nih.gov] 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis[emedicine.com] […] dysmetria Position sense defects Spinocerebellar ataxia 36 [40] Clinical features Mean age of onset - Approximately 53 years Truncal ataxia Ataxic dysarthria Limb ataxia Dysdiadochokinesis[emedicine.com]

    Missing: Mutation in the WWOX Gene Well-Defined Eyebrows
  • Huntington's Disease

    Abstract Huntington's disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years, several other distinct genetic disorders have been identified that can present with a clinical picture[…][dx.doi.org]

    Missing: Mutation in the WWOX Gene Well-Defined Eyebrows
  • Acute Disseminated Encephalomyelitis

    From Wikidata Jump to navigation Jump to search An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. ADEM acute Disseminated Encephalomyelitis acute[…][wikidata.org]

    Missing: Mutation in the WWOX Gene Well-Defined Eyebrows
  • Ataxia

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[ncbi.nlm.nih.gov] Nystagmus; Vestibulo-ocular reflex (VOR) Postural and gait dysfunction Midline (Vermis; paleocerebellum)Truncal & gait ataxia Hemisphere (Neocerebellum)Limb ataxia: Dysmetria, Dysdiadochokinesis[neuromuscular.wustl.edu] In males, spinocerebellar symptoms are apparent in childhood and can include delayed walking, predominantly truncal ataxia, dysmetria and dysdiadochokinesis.[orpha.net]

    Missing: Well-Defined Eyebrows
  • Friedreich Ataxia

    Mutat Res. 2015 Nov;781:14-21. doi: 10.1016/j.mrfmmm.2015.08.007. Epub 2015 Aug 30. Author information 1 Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA. 2 Laboratory of[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the WWOX Gene Well-Defined Eyebrows
  • Cerebellar Disease

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] Limb ataxia is shown by limbs that are clumsy, discoordinated, and that have difficulty with rapidly alternating movements (a phenomenon unhelpfully known as dysdiadochokinesis[medicguide.blogspot.com] Dysdiadochokinesis The patient will be unable to perform rapid alternating movements. Arrhythmokinesis The patient will be unable to tap out a simple tune on your desk.[derangedphysiology.com]

    Missing: Well-Defined Eyebrows