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381 Possible Causes for Breath Holding Episodes, Dysdiadochokinesis, 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] Clinical Synopsis: INHERITANCE: X-linked dominant HEAD AND NECK: [Head]; Microcephaly, progressive RESPIRATORY: Breath-holding episodes; Hyperventilation SKELETAL: [Spine][genome.jp]

  • 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: Breath Holding Episodes
  • 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: Breath Holding Episodes
  • 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: Breath Holding Episodes Mutation in the WWOX Gene
  • Breath-Holding Spell

    Some children who have had breath-holding episodes will have fainting episodes later in life.[childneurologyfoundation.org] […] caused by anaemia they're confused after a breath-holding episode any stiffness or shaking lasts much longer than a minute and they take a while to recover the episodes are[nhs.uk] Most children with breath-holding spells can have 1-6 episodes per week. 15-25% of children with breath-holding spells have multiple episodes daily.[pedclerk.bsd.uchicago.edu]

    Missing: Dysdiadochokinesis 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: Breath Holding Episodes 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: Breath Holding Episodes Mutation in the WWOX Gene
  • Acute Disseminated Encephalomyelitis

    There are four neurological complications that can occur after malaria treatment at a time when the patient is aparasitaemic: delayed cerebellar ataxia, acute inflammatory demyelinating polyneuropathy, post-malaria neurological syndrome and acute disseminated encephalomyelitis (ADEM). The authors describe a case of[…][ncbi.nlm.nih.gov]

    Missing: Breath Holding Episodes 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: Breath Holding Episodes
  • Friedreich Ataxia

    Friedreich ataxia (FRDA) is an autosomal recessive ataxia resulting from mutations in the frataxin gene (FXN). Such mutations, usually expanded guanine-adenine-adenine (GAA) repeats, give rise to decreased levels of frataxin protein in both affected and unaffected tissues. The goal was to understand the[…][ncbi.nlm.nih.gov]

    Missing: Breath Holding Episodes Mutation in the WWOX Gene

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