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836 Possible Causes for Dysdiadochokinesis, Multifocal Seizures, 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] Homozygous and compound heterozygous BRAT1 mutations have been described in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498).[jcnonweb.com] […] hypoplasia Abnormal pyramidal sign Dysmetria Hirsutism Brain atrophy Heterotopia Intrauterine growth retardation Truncal ataxia Intellectual disability, progressive Lissencephaly Dysdiadochokinesis[mendelian.co]

  • 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: Multifocal Seizures
  • Acute Disseminated Encephalomyelitis

    The meningoencephalitic presentation may include meningism, impaired consciousness (occasionally leading to coma), seizures and confusion, or behavioral disturbances.[ncbi.nlm.nih.gov] Unlike multiple sclerosis, symptoms are more systemic rather than focal and include fever, headache, decreased level of consciousness varying from lethargy to coma, seizure[radiopaedia.org] Unlike viral encephalitis, seizures rarely are a prominent symptom.[ncbi.nlm.nih.gov]

    Missing: Mutation in the WWOX Gene
  • 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] Seizure Syndrome, Lethal Neonatal Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant Spastic[familydiagnosis.com] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org]

  • Lethal Neonatal Spasticity - Epileptic Encephalopathy

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] […] development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia.[genecards.org] The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation . Brain 137 , 411–419 (2014). 2.[nature.com]

    Missing: Dysdiadochokinesis
  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] Abstract OBJECTIVE: Lethal neonatal rigidity and multifocal seizure syndrome is a newly recognized genetic disorder associated with early onset of rigidity, multifocal epilepsy[childnervoussystem.blogspot.com] Leu206*) associated with lethal neonatal rigidity and multifocal seizure syndrome.[jcnonweb.com]

    Missing: Dysdiadochokinesis
  • Spastic Ataxia with Congenital Miosis

    EEG showed multifocal interictal spikes and abundant seizures arising from both hemispheres and showing migration from one hemisphere to another within a seizure.[findzebra.com] 33 HP:0002075 12 abnormal conjugate eye movement 33 HP:0000549 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: dysdiadochokinesis delayed[malacards.org] Physical examination showed gait ataxia and dysmetria and dysdiadochokinesis of the limbs.[findzebra.com]

    Missing: Mutation in the WWOX Gene
  • Myelocerebellar Disorder

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] […] dystonia Folinic acid-responsive seizures Fountain syndrome Fowler syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Free sialic acid storage disease[se-atlas.de] […] 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]

  • 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] […] dystonia Folinic acid-responsive seizures Fountain syndrome Fowler syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Free sialic acid storage disease[se-atlas.de] 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]

  • Autosomal Dominant Spastic Paraplegia Type 8

    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] The seizures are of multiple types and have their onset in the first year of life. The EEG often shows diffuse slowing, multifocal spikes and hypsarrhythmia.[disorders.eyes.arizona.edu] Dysmetria with dysdiadochokinesis is often present and a fine intention tremor has been observed.[disorders.eyes.arizona.edu]