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Tuesday, 07 January 2025

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Assuming rare is required, and disorder is required, the following 84 results were found.

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

    Disruption at any of the stages in metabolism could contribute to primary and/or secondary contributions to ASD Possible Role for Metabolism in the Pathogenesis of ASD Overview of Metabolism: Metabolism encompasses biochemical processes for: Converting...

    • Type: Article
    • Author: Editor CNKE
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  2. Cerebellar ataxias according to main clinical featureshttps://cnke.org/articles/183

    Diseases Associated with Chorea Ataxia-Telangiectasia and Related Conditions ATX–ATM (Ataxia-Telangiectasia Mutated gene) A progressive condition involving cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased risk of malignancies....

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  3. Infantile Spasms Syndromehttps://cnke.org/articles/269

    (Krabbe disease) (GALC gene) (Gullotta F et al., 1979) Menkes disease (ATP7A gene) (Smpokou P et al., 2015) Rare Disorders Associated with ISs: Cerebrotendineous xanthomatosis (CYP27A1 gene) ( Larson A et al., 2017) Glucose transport 1 deficiency...

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  4. Circadian Rhythm Sleep-Wake Disorders (CRSWD)https://cnke.org/articles/164

    Introduction to Circadian Rhythms Definition: Circadian rhythms represent intrinsic, near-24-hour cycles that orchestrate physiological, behavioral, and molecular processes across the human body. These rhythms are foundational to maintaining...

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    • Author: Editor
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  5. Ion channel disordershttps://cnke.org/articles/231

    Ion channel disorders, or channelopathies, are a group of conditions that involve dysfunctions in ion channels—integral membrane proteins regulating the flow of ions across cellular membranes. In skeletal muscle, these disorders variably produce...

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

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

    Definition and Components of Language and Speech Language: A communication system acquired through use, involving symbols sequenced to share attention and ideas. Speech: One mechanism for expressing language, but other methods like gestures, sign...

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

  7. ADCY5 Dyskinesiahttps://cnke.org/articles/213

    ADCY5 dyskinesia is a hyperkinetic movement disorder characterized by infantile to late-adolescent onset of chorea, athetosis, dystonia, myoclonus, or a combination of these. Overview Hyperkinetic movement disorder, more prominent in the face and arms...

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

  8. Neuromuscular disorders in childrenhttps://cnke.org/articles/knowledge-maps/195

    Structured overview of neuromuscular disorders, spanning genetic, acquired, inflammatory, metabolic, and structural etiologies. Neurogenic Disorders Motor Neuron Disorders Spinal Muscular Atrophy (SMA) SMA Type 0 (prenatal onset) SMA Type 1...

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

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

    Mitochondrial disorders - investigations Definitive investigations have become more complex and specialized. However, clinical clues can point towards a mitochondrial disorder and fairly simple tests support the diagnosis sufficiently to proceed to...

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

  10. Alexander Diseasehttps://cnke.org/articles/253

    Alexander disease is a rare neurodegenerative disorder caused by mutations in the glial fibrillary acidic protein, a type III intermediate filament protein expressed in astrocytes. Introduction Definition: Alexander disease is a progressive disorder of...

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

  11. Autoimmune disordershttps://cnke.org/articles/200

    List of autoimmune neurological disorders in children, categorized by their primary clinical or pathophysiological presentation Central Nervous System (CNS) Disorders Demyelinating Disorders Acute Disseminated Encephalomyelitis (ADEM) Multiple...

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

  12. Gilles De La Tourette Syndromehttps://cnke.org/articles/260

    Overview Definition: Disorder characterized by multiple motor and vocal tics. Prevalence: Overall prevalence of 1% in children aged 5–18 years. Prevalence varies from 0.4–3.8% depending on country and diagnostic methodology (Eysturoy et al., 2015)....

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

    Urine biochemistry Test Indications Precautions Interpretation α-AASA (a-amino-adipic semialdehyde) Neonatal epileptic seizures (usually with suppression-burst), or later...

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    • Author: Editor
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  14. Investigations - Urine Biochemistryhttps://cnke.org/articles/291

    Urine Biochemistry Test Indications Precautions Interpretation α-AASA (a-amino-adipic semialdehyde) Neonatal epileptic seizures (usually with suppression-burst), or later pyridoxine-responsive epilepsy No need to obtain urine before giving pyridoxine or...

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    • Author: Editor
    • Category: Home

  15. Neurofibromatosishttps://cnke.org/articles/283

    Introduction Forms of Neurofibromatosis: Neurofibromatosis Type 1 (NF1): Previously known as von Recklinghausen disease, the most common type. NF2-related Schwannomatosis (NF2): Formerly neurofibromatosis type 2. Schwannomatoses: Related to genetic...

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    • Author: Editor
    • Category: Home

  16. Investigations in Neonatal Seizureshttps://cnke.org/articles/464

    Paroxysmal events are common in the neonate. It is not always easy to tell if these episodes are epileptic seizures because ERG discharges may not always be seen in epileptic seizures at this age. Non-epileptic events Benign neonatal sleep myoclonus If...

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  17. Investigations of the baby with abnormal neurologyhttps://cnke.org/articles/317

    Flat baby Further neurological investigations are indicated when the aetiology is not clearly asphyxia, trauma, infection or poisoning. Contributory causes include myotonic dystrophy and some congenital myopathies, glycine encephalopathy, mitochondrial...

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

    Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. It is characterized...

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

    Charcot–Marie–Tooth disease (CMT) refers to a group of genetically heterogeneous disorders affecting peripheral nerve function. Charcot–Marie–Tooth disease (CMT) Definition: Charcot–Marie–Tooth disease (CMT) refers to a group of genetically...

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

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

    TMS presents a promising, non-invasive intervention for modulating neurophysiological abnormalities associated with ASD. Autism Spectrum Disorder (ASD) ASD is a neurodevelopmental disorder characterized by: Difficulties in social communication and...

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    • Author: Editor
    • Category: Home
Results 1 - 20 of 84