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23 Possible Causes for Dysdiadochokinesis, Mutation in the WWOX Gene, Non-Progressive

  • Autosomal Recessive Spinocerebellar Ataxia

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] Genome-wide homozygosity mapping localises a gene for autosomal recessive non-progressive infantile ataxia to 20q11–q13. Hum Genet 2003 ; 113 : 293 –5.[jmg.bmj.com] 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]

  • Spinocerebellar Ataxia Type 12

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] What are the important causes of non-inherited progressive ataxias 41. • Multiple sclerosis • Anti-GAD antibodies • Celiac and gluten ataxia • Hypothyroidism • Hypopara-thyroidism[slideshare.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]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[cerebellumandataxias.biomedcentral.com] 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] Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome. Brain Dev 1993 ; 15 : 372 –6. Harding AE.[jmg.bmj.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] Genome-wide homozygosity mapping localises a gene for autosomal recessive non-progressive infantile ataxia to 20q11–q13. Hum Genet 2003 ; 113 : 293 –5.[jmg.bmj.com]

  • Spinocerebellar Ataxia Type 13

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.[experts.umn.edu] The neurologic examination showed markedly slow ocular saccades, dysarthria, upper and lower limb dysmetria, dysdiadochokinesis, and wide-based ataxic gait.[jamanetwork.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] , chronic Chronic non progressive ataxi Chronic non progressive ataxia (disorder) Chronic nonprogressive ataxia Clumsiness Dysgraphia Dysmetria Dyspraxia Incoordination Neonatal[icd9data.com]

  • Cerebellar Disease

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] Switzerland) Cerebellar agenesis Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Cerebellar hypoplasias Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Non-progressive[wiley.com] 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]

  • 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] The proposal include 8 syndromes; early myoclonic encephalopathy, Ohtahara syndrome, West syndrome, Dravet syndrome, myoclonic status in non-progressive encephalopathies,[intechopen.com] […] hypoplasia Abnormal pyramidal sign Dysmetria Hirsutism Brain atrophy Heterotopia Intrauterine growth retardation Truncal ataxia Intellectual disability, progressive Lissencephaly Dysdiadochokinesis[mendelian.co]

  • Autosomal Recessive Spastic Paraplegia Type 14

    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] Individuals with this “non-progressive” (non-worsening) pattern may resemble subjects with spastic cerebral palsy, a life-long disorder that also remains relatively stable[rarediseases.org] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org]

  • 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] […] degenerative ataxia Non-progressive cerebellar ataxia with intellectual disability Opsoclonus-myoclonus syndrome Orofaciodigital syndrome type 6 Paraneoplastic limbic encephalitis[se-atlas.de]

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