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Thursday, 09 January 2025

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Editor

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Assuming visual is required, the following 28 results were found.

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

    dentate nuclei hyperintensity. Genetic testing: CYP27A1 mutation confirmation. Electrophysiology: Abnormal sensory, motor, visual evoked potentials. Suspicion Index Early diagnosis possible when specific combinations of symptoms are present (Mignarri et...

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

  2. Transcranial Magnetic Stimulation (TMS) in Autism Spectrum Disordershttps://cnke.org/articles/182

    Functions Improved executive functioning Enhanced attention and working memory Better response inhibition Improved visual processing and perceptual binding C. Neurophysiological Effects Modulation of cortical excitability Normalization of gamma...

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

  3. Cerebellar ataxias according to main clinical featureshttps://cnke.org/articles/183

    in nature. MYC/ATX–NEU1 (NEU1 Gene Mutation) Found in Sialidosis Type I or II, characterized by myoclonus, ataxia, and visual impairment (cherry-red spots). PRICKLE1 Gene Mutation Linked to Myoclonic Epilepsy and Movement Disorder Syndrome. Presents...

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

  4. Measures for Hypertonia, Ataxia, and Ticshttps://cnke.org/articles/198

    Checklist (CBCL): Useful for identifying behavioral and social issues in children with tics. Pain and Discomfort Scales Visual Analog Scale (VAS): Assesses pain associated with hypertonia or tics. FLACC Scale (Face, Legs, Activity, Cry, Consolability):...

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

  5. Congenital Muscular Dystrophyhttps://cnke.org/articles/224

    These are often associated with developmental abnormalities in the eyes and brain, leading to: Cognitive deficits Epilepsy Visual loss Limb-Girdle Muscular Dystrophies (LGMDs): Milder, later-onset phenotypes. Weakness Distribution: More pronounced in...

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

  6. Hyperekplexiahttps://cnke.org/articles/236

    increased tone, is often present at birth. Excessive Startle Reflex: Exaggerated startle responses to tactile, auditory, or visual stimuli are hallmark features. Startle can trigger stiffening of the entire body (generalized tonic reflex), leading to...

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

  7. Speech and Language developmental disordershttps://cnke.org/articles/243

    Expressive Language Disorders: Primarily affect verbal memory. Mixed Receptive-Expressive Disorders: Affect both verbal and visual memory, including working memory. Differentiation from ASD: Receptive language impairments and ASD can overlap (e.g.,...

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

  8. Infantile Spasms: Treatmenthttps://cnke.org/articles/256

    (e.g., hypertension, infection risk). Vigabatrin: Particularly effective in Tuberous Sclerosis Complex (TSC). Risk of visual field defects requires monitoring. Second-Line Therapies: Ketogenic Diet: Used for refractory cases. Surgical Options: Indicated...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 21 - 28 of 28