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279 Possible Causes for Ataxia, Facial Grimacing, Seizure

  • Anti-NMDA Receptor Encephalitis

    One child presented with unsteady walking and slurred speech, suggestive of cerebellar ataxia, and 3 had inability to bear weight on a unilateral lower extremity, resulting[ncbi.nlm.nih.gov] KEYWORDS: Anti-NMDA-R encephalitis; Dynamical causal modelling (DCM); EEG; Seizures[ncbi.nlm.nih.gov] Examination on the day of admission revealed an awake, alert, and interactive male with focal speech production difficulties, asymmetric facial grimace, hyperactive deep tendon[dx.doi.org]

  • Wilson Disease

    RESULTS: Most patients (62.3%) exhibited tremor and ataxia, whereas 15.1% were dystonic, and 11.3% had parkinsonism.[ncbi.nlm.nih.gov] His WD was in a state of remission when he developed the seizure disorder. On endoscopic cyst fenestration, he was relieved of the seizure.[ncbi.nlm.nih.gov] The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling[ncbi.nlm.nih.gov]

  • Hallervorden-Spatz Syndrome

    The patient presented with a slowly progressive illness with seizures, extrapyramidal symptoms, cerebellar ataxia, dementia, spasticity, myoclonic movements and a severe demyelinating[ncbi.nlm.nih.gov] grimacing painful muscle spasms HSD is a genetic disease.[healthline.com] Although rare, cerebellar ataxia, behavioural abnormalities, parkinsonism and apraxia of eyelid opening were exclusively seen in late onset patients.[ncbi.nlm.nih.gov]

  • Huntington's Disease

    We screened 89 patients with a Huntington's disease-like phenotype without the HD-gene mutation and 178 patients with genetically unclassified cerebellar ataxia for the mutation[ncbi.nlm.nih.gov] We diagnosed psychogenic non-epileptic seizures.[ncbi.nlm.nih.gov] grimaces.[patient.info]

  • Paroxysmal Non-Kinesigenic Dyskinesia

    Many types of spinocerebellar ataxias (SCAs) manifest as progressive disorders with cerebellar involvement.[ncbi.nlm.nih.gov] We report the case of a boy with paroxysmal dystonic events in differential diagnosis between movement disorders and epileptic seizures.[moh-it.pure.elsevier.com] There was no axial muscle involvement, nor any oromandibular dystonia or facial grimacing.[neurologyindia.com]

  • Neuronal Ceroid Lipofuscinosis

    We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia.[ncbi.nlm.nih.gov] Seizure severity did not vary by sex or genotype. Seizures showed mild worsening with increasing age.[ncbi.nlm.nih.gov] […] face-long fingers syndrome Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome Severe limb deficit Severe motor and intellectual[csbg.cnb.csic.es]

  • Rolandic Epilepsy

    Supplementary Information accompanies the paper on European Journal of Human Genetics website ( ) Further reading Elongator mutation in mice induces neurodegeneration and ataxia-like[doi.org] Therapy is often unnecessary and seizures spontaneously end at puberty.[ncbi.nlm.nih.gov] In both children, the seizure frequency decreased with increasing age.[ncbi.nlm.nih.gov]

  • Phencyclidine Intoxication

    ataxia, impotence, and fetal effects.[books.google.com] Motor signs included grand mal seizures, generalized rigidity, localized dystonias, catalepsy, and athetosis.[ncbi.nlm.nih.gov] A patient with PCP intoxication may exhibit motor disturbances such as facial grimacing, tremor, and catalepsy.[theravive.com]

  • Episodic Ataxia

    cerebellar ataxia (AHPCA).[en.wikipedia.org] Mutations in CACNA1A encoding a neuronal calcium channel and ATP1A2 encoding an ion pump cause episodic ataxia, hemiplegic migraine, and seizures.[ncbi.nlm.nih.gov] grimacing and nystagmus.[neurologyindia.com]

  • Cerebral Palsy

    BACKGROUND: Ataxia-telangiectasia (A-T) is an autosomal recessive disease that consists of progressive cerebellar ataxia, variable immunodeficiency, sinopulmonary infections[ncbi.nlm.nih.gov] Treatment may include physical and occupational therapy, speech therapy, drugs to control seizures, relax muscle spasms, and alleviate pain; surgery to correct anatomical[ninds.nih.gov] grimacing, and inarticulate speech (dysarthria)—all of which increase under stress or excitement.[britannica.com]

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