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Friday, 04 April 2025

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Assuming sca is required, the following 63 results were found.

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

    including movement disorders such as chorea, along with progressive neurological symptoms. Spinocerebellar Ataxias (SCAs) SCA2/ATXN2 (large CAG expansion) Spinocerebellar Ataxia Type 2 can involve chorea in the advanced stages of the disease, along with...

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

  2. Psychometric measureshttps://cnke.org/articles/197

    neuropsychaological assessment of children based on the domains they assess. General Cognitive Ability Wechsler Intelligence Scale for Children (WISC-V) Stanford-Binet Intelligence Scales (SB5) Kaufman Assessment Battery for Children (KABC-II)...

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

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

    of various measures and scales for the assessment of hypertonia, ataxia and tics General Hypertonia Assessment Tools Hypertonia Assessment Tool (HAT): Differentiates between spasticity, dystonia, and rigidity in children. Modified Tardieu Scale (MTS):...

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

  4. Facioscapulohumeral muscular dystrophyhttps://cnke.org/topics/facioscapulohumeral-muscular-dystrophy

    • Type: Tag
    • Author: Editor CNKE

  5. Hereditary ataxias due to repeat expansionshttps://cnke.org/articles/186

    can assist in the diagnosis by revealing characteristic patterns of atrophy. The spectrum of spinocerebellar ataxias (SCAs) varies widely in clinical features, onset age, and genetic causes. Repeat expansion size influences severity and associated...

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

  6. Facioscapulohumeral muscular dystrophy https://cnke.org/articles/226

    Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy characterized by progressive, often asymmetrical muscle weakness involving the face, scapular region, and limb girdle muscles. Clinical features Primary Symptoms: Wasting...

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

  7. Incontinentia Pigmentihttps://cnke.org/articles/475

    Onset: ~6 months; persists into adulthood, fades in late teens/20s. Stage IV (Atretic): Linear hypopigmentation, alopecia (scalp, trunk, extremities). Follows fading hyperpigmentation; not present in all individuals. Hair: Alopecia (patchy or...

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

  8. Self Injurious Behaviour (SIB) https://cnke.org/articles/32

    and those with developmental disorders. Aberrant Behavior Checklist[4] Behavior Problems Inventory-01[5] Children’s Scale of Hostility and Aggression: Reactive/Proactive[6] Developmental Behavior Checklist[7] Nisonger Child Behavior Rating Form[8]...

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

  9. Inherited Cerebellar Ataxias (ICAs)https://cnke.org/articles/184

    Areflexia Syndrome (CANVAS) Gene: RFC1 (AAGGG repeat expansion) Onset: Usually adult (mean 54 years) Spinocerebellar Ataxias (SCAs) Most common ADCAs Several types (SCA1, SCA2, SCA3, etc.) Often due to CAG repeat expansions Fragile X-associated...

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

  10. NGN-401https://cnke.org/articles/160

    Findings: Restoration of MECP2 expression normalized dendritic spine morphology and synaptic density. Safety Profile: Dose-escalation studies confirmed minimal off-target effects and no evidence of systemic toxicity. Clinical Trials Initial Phase I/II...

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

  11. Progressive myoclonus epilepsy https://cnke.org/articles/258

    88% of LD families accounted for by mutations in EPM2A (48%) and EPM2B (40%) (Chan 2003). Third genome-wide linkage scan underway to identify additional LD genes. Laforin Protein–Protein Interactors Three candidate protein partners identified using...

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

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

    given before tumor resection if there is delay in surgery. There remains uncertainty as to the benefits of a regimen of escalation of treatment vs front-loading treatment. Some children will respond to steroid treatment alone and will therefore be...

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

  13. Scales and Measureshttps://cnke.org/topics/scales-and-measures

    • Type: Tag
    • Author: Editor CNKE

  14. Metabolic derangements and Autismhttps://cnke.org/articles/126

    benefit of the diet was found (Hyman et al., 2016). Other small randomized-control trials showed improvements on parent-rated scales but lacked monitoring of diet adherence or concurrent ASD treatments (Knivsberg et al., 2002; Whiteley et al., 2010). A...

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

  15. Glasgow coma scalehttps://cnke.org/topics/glasgow-coma-scale

    • Type: Tag
    • Author: Editor CNKE

  16. Limb-Girdle Muscular Dystrophieshttps://cnke.org/articles/228

    variability in phenotypes. Differential Diagnosis: Includes Duchenne/Becker muscular dystrophies, myotonic dystrophy, facioscapulohumeral muscular dystrophy (FSHD), and juvenile acid maltase deficiency. Females with mild symptoms may be manifesting...

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

  17. The Normal EEG in Childrenhttps://cnke.org/articles/25

    childhood population. Lambda Waves Lambda waves are sharply contoured occipital transients evoked by saccadic eye movements scanning a well-illuminated picture or complex design. The most constant and prominent phase is surface positive, whose duration...

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

  18. Nesprinopathieshttps://cnke.org/articles/318

    2007, recessive mutations in SYNE1 were identified as a cause of pure cerebellar ataxia in French-Canadian families, termed SCAR8 or ARCA1 (Gros-Louis et al., 2007). Japanese patients with SYNE1 mutations showed SCAR8 with motor neuron disease,...

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

  19. Glasgow Coma Scalehttps://cnke.org/articles/306

    D. (ed) Neuro-Oncology for Nurses. London: Whurr Publishers 4. Fischer J, Mathieson C. The history of the Glasgow Coma Scale: implications for practice. Crit Care Nurs Q. 2001 Feb;23(4):52-8. doi: 10.1097/00002727-200102000-00005. [PMID: 11852950] [DOI:...

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

  20. Pantothenate Kinase-Associated Neurodegeneration (PKAN)https://cnke.org/articles/46

    hyperactivity, impulsivity, obsessive-compulsive disorder, vocal and motor tics, depression, and anxiety. A case described by Scarano et al. (2002) involved a patient who began stuttering at age 10 and developed an unsteady gait and frequent falls by...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 1 - 20 of 63