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Tuesday, 07 January 2025

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Editor

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Assuming clinical is required, the following 157 results were found.

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

    overlapping with ataxia, dystonia, or other movement disorders. Each associated gene or syndrome contributes specific clinical and molecular nuances that guide diagnosis and management. Diseases Associated with Myoclonus Ataxia-Related Myoclonus...

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

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

    autosomal recessive hearing deficit (Horn et al., 2013). SYNE3 mutations have not been linked to any genetic disorder. Clinical Manifestations Clinical abnormalities from nesprin-1 and nesprin-2 mutations include: Cerebellar ataxia Emery-Dreifuss...

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

  3. Multiminicore Diseasehttps://cnke.org/articles/multiminicore-disease

    Overview Multiminicore Disease (MmD): A clinically and genetically heterogeneous congenital myopathy characterized by multiple small cores in muscle fibers on biopsy. Main Forms: Rigid Spine Muscular Dystrophy Type 1 (RSMD1): Caused by recessive SEPN1...

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

  4. Ion channel disordershttps://cnke.org/articles/231

    Classification of Ion Channel Disorders Affecting Skeletal Muscle Ion channel disorders can be grouped as follows: Clinical and Neurophysiological Evidence of Myotonia: Dystrophic muscle disorders: Includes myotonic dystrophy, where weakness and...

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

  5. The History of Rett Syndromehttps://cnke.org/historical-vignettes/162

    the underlying causes of unexplained neurodevelopmental conditions. His meticulous observational skills and dedication to clinical research would ultimately lead to the identification of Rett syndrome. In 1966, Dr. Rett observed two preschool-aged girls...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

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

    of Repeat Expansion Disorders in Child Neurology Fragile X Syndrome Gene: FMR1. Repeat: CGG (>200 for full mutation). Clinical Features: Intellectual disability, autistic features, hyperactivity. Physical features: Large ears, long face, macroorchidism....

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

  7. Kenneth J Mackhttps://cnke.org/editors/kenneth-j-mack

    for their contributions to the Child Neurology community over the span of a career. As he became more and more involved in clinical work Dr. Mack drifted toward clinical research and away from the laboratory. The Mayo Clinic was fortunate enough to...

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

  8. Migraine in childhoodhttps://cnke.org/articles/358

    of acute and preventative pharmacologic and non-pharmacologic treatment of pediatric migraine, including recent or ongoing clinical trials. Index Acute Treatment of Migraine in Pediatrics: Guidelines and Recommendations Guidelines Overview Importance of...

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

  9. Guillaume Duchenne (1806–1875)https://cnke.org/historical-vignettes/175

    His companion atlas, Album de photographies pathologiques, broke new ground as the first neurology text illustrated with clinical photography. Duchenne’s inventive mind also led to the creation of new diagnostic tools, including Duchenne’s trocar, a...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  10. Rett Syndrome : Clinical Geneticshttps://cnke.org/articles/155

    account for 85% of cases. C-terminal deletions and other mutations also implicated. Variants and Modifiers: XCI impacts clinical severity but peripheral blood patterns may not reflect brain XCI. BDNF polymorphisms (e.g., val/met genotype) influence...

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

  11. 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

  12. Clinical Caseshttps://cnke.org/component/communityanswers/category?Itemid=101

    & A on clinical case scenarios

    • Type: Category

  13. Congenital Myopathieshttps://cnke.org/articles/218

    with: Hypotonia and weakness from birth. Characteristic histological and/or electron microscopic changes in muscle tissue. Clinical severity: Wide variation within and across forms. Overlap with other neuromuscular disorders: Muscular dystrophies....

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

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

    of muscle fibers Increased variability in fiber size Replacement of muscle tissue by fat and connective tissue. Clinical Spectrum The clinical presentation of LGMDs varies widely: Severe forms: Early onset in the first decade, rapid progression, and a...

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

  15. Muscle Conditions with Myotonia or Myotonia-like Symptomshttps://cnke.org/articles/knowledge-maps/230

    Muscle Conditions with Myotonia or Myotonia-like Symptoms Clinical and Electrical Myotonia Conditions where both clinical symptoms of myotonia (delayed muscle relaxation after contraction) and electrical myotonia (diagnosed via EMG) are present:...

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

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

    moderate-severe TBI Posterior Fossa Tumors: Dysarthria occurs in ~33% of children post-resection Types of Dysarthria with Clinical Features and Aetiologies Flaccid Dysarthria (Lower Motor Neuron Lesion) Clinical Features: Lax open mouth Atonia Weakness...

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

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

    due to potential disability/progression). Familial dyskinesia facial myokymia. Recommended designation: DYT-ADCY5. Clinical Findings Neurologic Manifestations Movement Disorders: Choreiform, myoclonic, and/or dystonic movements affecting limbs, face,...

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

  18. Friedrich Horner: A Pioneer in Neuro-Ophthalmologyhttps://cnke.org/historical-vignettes/177

    While his contributions extended beyond this condition, his seminal observations in this area remain a cornerstone of clinical neurology. A Life Steeped in Learning and Innovation Horner's father, a physician, inspired his medical journey. After...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  19. Clinical Topicshttps://cnke.org/component/communityquiz/category/clinical-topics?Itemid=101

    • Type: Category

  20. Clinical Caseshttps://cnke.org/component/communityanswers/category?Itemid=101

    • Type: Category
Results 21 - 40 of 157