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323 Possible Causes for Dysarthria (74%), Dysdiadochokinesis, Mutation in the WWOX Gene

Did you mean: Dysarthria (74, ), Dysdiadochokinesis, Mutation in the WWOX Gene

  • 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: Dysarthria (74%)
  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] Leukoencephalopathy Urinary urgency Spastic dysarthria Spastic ataxia Mild hearing impairment Ranula Scoliosis Retinal degeneration Progressive visual loss Inability to walk Dysdiadochokinesis[mendelian.co] The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[link.springer.com]

  • 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] […] minimal or absent. 73 74 76 Comparing the clinical parameters of those with point mutations to those homozygous for a GAA expansion, Cossee et al 74 found a significantly[jmg.bmj.com]

  • Friedreich Ataxia

    […] minimal or absent. 73 74 76 Comparing the clinical parameters of those with point mutations to those homozygous for a GAA expansion, Cossee et al 74 found a significantly[doi.org] […] minimal or absent.73 74 76 Comparing the clinical parameters of those with point mutations to those homozygous for a GAA expansion, Cossee et al 74 found a significantly earlier[jmg.bmj.com] […] mellitus (8%) and foot deformity (74%) ( Delatycki 1999 ).[doi.org]

    Missing: Mutation in the WWOX Gene
  • 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] […] infantile, Ataxia-oculomotor AR 34 23 PNPO Pyridoxamine 5'-phosphate oxidase deficiency AR 15 31 POLG POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria[blueprintgenetics.com]

  • 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: Dysarthria (74%)
  • Multiple Sclerosis

    Four disease courses have been identified in multiple sclerosis: clinically isolated syndrome (CIS), relapsing-remitting MS (RRMS), primary progressive MS (PPMS), and secondary progressive MS (SPMS). AJ Diagnosed in 2000 Managing MS Getting the care you need Managing MS is an ongoing process, beginning with the very[…][web.archive.org]

    Missing: Dysarthria (74%) Mutation in the WWOX Gene
  • 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: Dysarthria (74%) Mutation in the WWOX Gene
  • Huntington's Disease

    Although Huntington's disease has existed since at least the seventeenth century, and although several physicians provided earlier descriptions of hereditary chorea, Huntington's disease was not generally recognized until the classic description by George Huntington (1850–1916) in 1872. This paper – on the[…][oadoi.org]

    Missing: Dysarthria (74%) Mutation in the WWOX Gene
  • Acute Disseminated Encephalomyelitis

    Classically, transverse myelitis and acute disseminated encephalomyelitis are considered central nervous system demyelinating conditions. In both conditions, the spinal cord is involved to varying degrees, and there is a variety of presentations, usually involving some degree of progressive paralysis of the upper[…][ncbi.nlm.nih.gov]

    Missing: Dysarthria (74%) Mutation in the WWOX Gene