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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[] KEYWORDS: Anti-NMDA-R encephalitis; Dynamical causal modelling (DCM); EEG; Seizures[] Examination on the day of admission revealed an awake, alert, and interactive male with focal speech production difficulties, asymmetric facial grimace, hyperactive deep tendon[]

  • Wilson Disease

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

  • 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[] grimacing painful muscle spasms HSD is a genetic disease.[] Although rare, cerebellar ataxia, behavioural abnormalities, parkinsonism and apraxia of eyelid opening were exclusively seen in late onset patients.[]

  • 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[] We diagnosed psychogenic non-epileptic seizures.[] grimaces.[]

  • Paroxysmal Non-Kinesigenic Dyskinesia

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

  • Neuronal Ceroid Lipofuscinosis

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

  • 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[] Therapy is often unnecessary and seizures spontaneously end at puberty.[] In both children, the seizure frequency decreased with increasing age.[]

  • Phencyclidine Intoxication

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

  • Episodic Ataxia

    cerebellar ataxia (AHPCA).[] Mutations in CACNA1A encoding a neuronal calcium channel and ATP1A2 encoding an ion pump cause episodic ataxia, hemiplegic migraine, and seizures.[] grimacing and nystagmus.[]

  • Cerebral Palsy

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

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