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Monday, 06 January 2025

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Editor

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Assuming ataxia is required, the following 46 results were found.

  1. 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
    • Category: Home

  2. 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. 29 December 2024. Available at: https://cnke.org/articles/330...

    • Type: Article
    • Author: Editor
    • Category: Home

  3. 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
    • Category: Home

  4. 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

  5. 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
    • Category: Home

  6. 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
    • Category: Home

  7. 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
    • Category: Home

  8. 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
    • Category: Home

  9. 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
    • Category: Home

  10. 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
    • Category: Home

  11. 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
    • Category: Image of the Week

  12. 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

  13. 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

  14. 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

  15. 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
    • Category: Home

  16. Biju Hameedhttps://cnke.org/editors/biju-hameed

    and neurorehabilitation in children. Within complex movement disorders, his focus is on the management of dystonia, tremor, ataxia, and spasticity in children. He has several years of expertise in the management of children with cerebral palsy, genetic...

    • Type: Article
    • Author: Editor
    • Category: Editors

  17. 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

  18. 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
    • Category: Home

  19. Common Epilepsy Geneshttps://cnke.org/articles/277

    encephalopathy KCNQ2 Benign familial neonatal seizures (BFNS) Epileptic encephalopathy KCNQ3 BFNS CACNA1A Episodic ataxia Familial hemiplegic migraine Epilepsy CACNA1H Childhood absence epilepsy KCNT1 Malignant migrating partial seizures of infancy...

    • Type: Article
    • Author: Editor
    • Category: Home

  20. Pendular Nystagmushttps://cnke.org/articles/462

    sensation of a moving visual field). Systemic Features: Neurological signs may accompany in acquired cases (e.g., ataxia in multiple sclerosis). Diagnostic Evaluation History: Age of onset: Congenital vs. acquired. Associated visual or neurological...

    • Type: Article
    • Author: Editor
    • Category: Home
Results 21 - 40 of 46