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297 Possible Causes for Dysdiadochokinesis, High Intrafamilial and Interfamilial Variability, Mutation in the WWOX Gene

  • 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]

  • 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: High Intrafamilial and Interfamilial Variability
  • 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: High Intrafamilial and Interfamilial Variability
  • Multiple Sclerosis

    Multiple sclerosis (MS, disseminated sclerosis, encephalomyelitis disseminata) is an inflammatory demyelinating disease of the central nervous system. Multiple sclerosis is divided into the following categories: Relapsing-remitting MS, Secondary progressive MS, Primary progressive MS and Progressive-relapsing MS. Individuals[…][symptoma.com]

    Missing: High Intrafamilial and Interfamilial Variability 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: High Intrafamilial and Interfamilial Variability Mutation in the WWOX Gene
  • Huntington's Disease

    Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a polyglutamine stretch in the huntingtin protein. Today, more than 15 years after the genetic defect underlying HD was discovered, the pathogenesis is still not well understood and there is no adequate treatment. Research into this[…][ncbi.nlm.nih.gov]

    Missing: High Intrafamilial and Interfamilial Variability Mutation in the WWOX Gene
  • 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: High Intrafamilial and Interfamilial Variability Mutation in the WWOX Gene
  • 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: High Intrafamilial and Interfamilial Variability
  • Friedreich Ataxia

    Friedreich ataxia is an autosomal recessive disorder resulting in progressive neurologic and cardiac sequelae. It leads to significant morbidity as well as death. While the age of onset varies from one individual to another, it usually occurs around puberty. However, there are individuals in which FA presents much[…][symptoma.com]

    Missing: High Intrafamilial and Interfamilial Variability 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] 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]

    Missing: High Intrafamilial and Interfamilial Variability