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Saturday, 12 April 2025

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Assuming ataxia is required, the following 49 results were found.

  1. Migrainehttps://cnke.org/articles/37

    kaleidoscopic patterns, micropsia, macropsia, metamorphopsia), attention loss, confusion, amnesia, agitation, aphasia, ataxia, dizziness, vertigo, paresthesia, or hemiparesis. Duration and Intensity Headache Duration: Can last from 60 minutes to 48...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  2. Investigations in suspected mitochondrial disordershttps://cnke.org/articles/34

    and respiratory impairment usually absent, more variable neurology (genes as in Leigh) Episodic, static or progressive ataxia ± other neurological deficits ± cerebellar lactate peak on H-MRS (POLG1, mtDNA depletion, ubiquinone deficiency). Chronic...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  3. Cerebrotendinous Xanthomatosis (CTX)https://cnke.org/articles/146

    Infantile diarrhea, cataracts, tendon xanthomas, progressive neurologic impairments. Neurologic manifestations: Ataxia, dystonia, epilepsy, dementia, etc. Diagnostic delay: Median of 16 years. Early intervention with chenodeoxycholic acid (CDCA)...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  4. Opsoclonus Myoclonus Ataxia Syndromehttps://cnke.org/articles/330

    reactions, thrombosis, headaches, and aseptic meningitis. Cite this: Cite this: CNKE contributors.Opsoclonus Myoclonus Ataxia Syndrome. CNKE.org, The Child Neurology Knowledge Environment. 10 January 2025. Available at: https://cnke.org/articles/330...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  5. Mitochondrial Disordershttps://cnke.org/articles/knowledge-maps/259

    Episodes. MERRF: Myoclonic Epilepsy with Ragged-Red Fibers. LHON: Leber Hereditary Optic Neuropathy. NARP: Neuropathy, Ataxia, and Retinitis Pigmentosa. Pearson Syndrome: Bone marrow failure and pancreatic dysfunction. Deafness and Diabetes (MIDD):...

    • Type: Article
    • Author: Editor CNKE
    • Category: Knowledge Maps

  6. Dentatorubral-Pallidoluysian Atrophy (DRPLA)https://cnke.org/articles/211

    DRPLA (dentatorubral-pallidoluysian atrophy) is a progressive neurologic disorder characterized by ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. Overview Hallmark features Ataxia Cognitive decline Myoclonus...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  7. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    normal. Treatment: Folinic acid. 10. Glucose Transporter 1 (GLUT1) Deficiency Presentation: Epilepsy (absence, myoclonus), ataxia, intermittent dyskinesia. Key Investigations: CSF glucose, low CSF/blood glucose ratio (0.19–0.49). Normal/low lactate....

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  8. Dravet syndromehttps://cnke.org/articles/180

    prematurity and hypoxic ischemic insults Developmental Delay Children start walking at a normal age but later develop ataxia and upper motor neuron signs Language also starts at the normal age, but it progresses very slowly, and children often do not...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  9. Biochemical investigations in Urinehttps://cnke.org/articles/167

    glutaryl carnitine in glutaric acidura type 1 (GA1) Amino acids Learning disability, acute encephalopathy, intermittent ataxia, various syndromes including Lowe 24-h sample not necessary. If unusual amino acid being sought (e.g. S-sulphocysteine in...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  10. Lafora diseasehttps://cnke.org/articles/259

    Genetic cause rarely identified Unverricht-Lundborg Disease (EPM1) Stimulus-sensitive myoclonus and tonic-clonic seizures Ataxia, tremor, dysarthria, emotional sensitivity, depression, cognitive decline Slower progression, earlier onset, no Lafora...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  11. Dravet syndromehttps://cnke.org/articles/265

    prematurity and hypoxic ischemic insults Developmental Delay Children start walking at a normal age but later develop ataxia and upper motor neuron signs Language also starts at the normal age, but it progresses very slowly, and children often do not...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  12. Benign Paroxysmal Torticollis of Infancyhttps://cnke.org/articles/270

    episodes ceased at 5 years of age. Older children sometimes reported the sensation that the "house was turning," and ataxia was noted in four children during episodes. EEG and neuroimaging studies are typically normal in BPTI cases. Snyder’s Findings...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  13. cherry-red-spothttps://cnke.org/?view=article&id=118:350&catid=15

    cases. Sialidosis (Mucolipidosis type 1) Lysosomal storage disease caused by alpha-neuraminidase deficiency. Presents with ataxia, movement disorders, nystagmus, myoclonic seizures. Two types: Type I (onset in 2nd/3rd decade, gait disturbances,...

    • Type: Article
    • Author: Editor CNKE
    • Category: Image of the Week

  14. The History of Rett Syndromehttps://cnke.org/historical-vignettes/162

    Hagberg published a landmark paper in the Annals of Neurology in 1983 titled "A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases." This publication catalyzed global...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  15. Charcot–Marie–Tooth disease (CMT)https://cnke.org/articles/214

    Decreased or absent. Sensory Involvement Loss of Sensation: Abnormalities of touch, proprioception, and vibration. Sensory ataxia. Pain: Dysaesthesiae or shooting pains are not typical. Severe pain may result from foot deformities or calluses....

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  16. Investigations - Urine Biochemistryhttps://cnke.org/articles/291

    glutaryl carnitine in glutaric acidura type 1 (GA1) Amino acids Learning disability, acute encephalopathy, intermittent ataxia, various syndromes including Lowe 24-h sample not necessary. If unusual amino acid being sought (e.g. S-sulphocysteine in...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  17. Posterior Fossa Syndrome (PFS)https://cnke.org/articles/248

    like the dentate nuclei, superior cerebellar peduncles, and their projections. Key Clinical Features Cerebellar Dysfunction Ataxia (truncal and appendicular). Dysmetria. Impaired balance and coordination. Oculomotor Dyspraxia Difficulty initiating or...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  18. Paroxysmal Kinesigenic Dyskinesiashttps://cnke.org/articles/271

    and a new classification. Mov Disord 29: 1108–16. Jankovic J, Demirkiran M. Classification of paroxysmal dyskinesias and ataxias. Adv Neurol 2002;89:387–400. Kertesz A (1967) Paroxysmal kinesigenic choreoathetosis. Neurology 17: 680–90. Kure S. Atypical...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  19. PLA2G6-Associated Neurodegenerationhttps://cnke.org/articles/47

    fast activity. Dystonia is generally milder compared to PKAN. Atypical Neuroaxonal Dystrophy (NAD): May present more with ataxia rather than spasticity. The phenotype is less severe compared to the infantile form. PLA2G6-Related Dystonia-Parkinsonism:...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  20. Genetic Epilepsy with Febrile Seizures Plus (GEFS+)https://cnke.org/articles/276

    is common Normal development in the first year, followed by developmental regression Difficulty in coordinating movements (ataxia) and intellectual disability Intermediate Severity Seizure Disorders in GEFS+ Some people with GEFS+ have seizure disorders...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 21 - 40 of 49