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Wednesday, 08 January 2025

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Assuming developmental is required, and dysarthria is required, the following 13 results were found.

  1. 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

  2. Acquired Dysarthriahttps://cnke.org/articles/247

    Dysarthria is a speech articulation impairment affecting intelligibility, particularly through consonant production. It can also disrupt phonation, resonation, and prosody, leading to slurred, effortful speech. Dysarthria is often associated with...

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

  3. 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

  4. Developmental Dysarthria in Syndromic Conditionshttps://cnke.org/articles/245

    Developmental Dysarthria in Syndromic Conditions Causes: Often linked to structural brain anomalies such as perisylvian or perirolandic polymicrogyria, cerebellar anomalies, Joubert syndrome, and brainstem dysgenesis. Differential Diagnosis: Childhood...

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

  5. 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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    • Author: Editor
    • Category: Home

  6. CNS Degenerative Disorders in Infancyhttps://cnke.org/articles/314

    Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Somatic Findings Motor Findings Seizures Labs Clinical Course White matter Globoid (Krabbe) leukodystrophy Recessive galactocerebroside β-galactosidase deficiency....

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    • Author: Editor
    • Category: Home

  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. Dysarthria: Clinical featureshttps://cnke.org/articles/205

    Flaccid Dysarthria (Lower Motor Neuron Lesion) Clinical Features: Lax open mouth Atonia Weakness Wasting Drooling Feeding difficulties Absent jaw, gag, and cough reflexes Causes: Dystrophia myotonica Prader-Willi Syndrome Myasthenia gravis...

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

  9. Repeat Expansionshttps://cnke.org/articles/187

    Introduction to Repeat Expansions Definition: Repeat expansions refer to the abnormal increase in the number of tandem nucleotide repeats in specific regions of the genome. Examples: CAG, CGG, CTG, GAA repeats. Significance: These expansions can...

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

  10. Familial (Autosomal Dominant) Focal Epilepsieshttps://cnke.org/articles/357

    Overview: Temporal lobe epilepsy was traditionally considered an acquired condition. Causes include lesions such as: Hippocampal sclerosis Tumours Trauma Vascular malformations Malformations of cortical development Recent research has highlighted the...

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    • Author: Editor
    • Category: Home

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

    ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum Introduction and Overview Definition: ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum Additional...

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    • Author: Editor CNKE
    • Category: Home

  12. Pompe Diseasehttps://cnke.org/articles/470

    Overview Definition: Pompe disease is a lysosomal storage disorder caused by defective glycogenolysis, leading to glycogen accumulation in lysosomes. Pathophysiology: Lysosome rupture leads to tissue damage. Primarily affects skeletal and cardiac...

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    • Author: Editor
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  13. CNS Degenerative Disorders of Childhoodhttps://cnke.org/articles/315

    Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Motor System Seizures Laboratory and Tissue Studies Course Adrenoleukodystrophy and variants (peroxisomal disease) X-linked Xq28 Neonatal form: AR Acyl-CoA synthetase 5–10...

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    • Author: Editor
    • Category: Home
Results 1 - 13 of 13