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Tuesday, 07 January 2025

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Assuming diagnosis is required, the following 112 results were found.

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

    unilateral sharp and slow wave complexes (22%). Sleep may occasionally activate epileptiform abnormalities. Differential Diagnosis: Differentiating from normal phenomena in cases with mild and infrequent seizures of predominantly déjà vu can be...

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    • Author: Editor
    • Category: Home

  2. Investigations in Peroxisomal Disordershttps://cnke.org/articles/466

    pathway (but not in all defects of isolated peroxisomal enzymes). This is the only test necessary for confirmation of the diagnosis of adrenoleukodystrophy in the regressing schoolchild. VLCFAs in fibroblasts If a peroxisomopathy is suspected - as when...

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    • Author: Editor
    • Category: Home

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

    function in adult-onset cases. Disease progression: Earlier onset correlates with more severe and faster progression. Diagnosis Clinical Presentation: Symptoms of muscle and/or cardiac involvement. Tests: Measurement of alpha-glucosidase enzyme activity...

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    • Author: Editor
    • Category: Home

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

    Factors: Array CGH and whole exome sequencing identify deletions or duplications in RTT-like phenotypes. Differential Diagnosis Conditions Resembling RTT: Angelman syndrome: Unique facial features, cheerful disposition, and hand flapping. Pitt-Hopkins...

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    • Author: Editor
    • Category: Home

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

    chronic patterns of disrupted sleep and wakefulness, often interfering with daily functioning and psychosocial well-being. Diagnosis of Intrinsic CRSWDs Common Diagnostic Criteria: Symptoms must persist for at least 3 months, reflecting a chronic...

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  6. Hopkins syndromehttps://cnke.org/articles/hopkins-syndrome

    in long-term disability. Non-Recurrence: Paralysis does not recur even with subsequent asthma exacerbations. Differential Diagnosis Acute Flaccid Myelitis (AFM): Associated with Enterovirus, featuring MRI evidence of anterior horn involvement....

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    • Author: Editor
    • Category: Home

  7. Terms and Conditionshttps://cnke.org/about/172

    purposes only. CNKE.org does not provide medical advice and is not a substitute for professional medical consultation, diagnosis, or treatment. If you are a patient, consult your healthcare provider for advice tailored to your condition. In case of a...

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

  8. Papillodemahttps://cnke.org/articles/179

    enlargement or peripheral field constriction. Humphrey visual field showing enlarged blind spot in both eyes. Differential Diagnosis Pseudopapilloedema: Optic disc drusen (autofluorescence, B-scan ultrasonography, or OCT). Optic Neuritis: Pain with eye...

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    • Author: Editor
    • Category: Home

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

    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 Syndromes ATX–ADCK3 (Coenzyme Q10 Deficiency...

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  10. Hereditary Neuralgic Amyotrophy (HNA)https://cnke.org/articles/216

    is autosomal dominant. Histopathology: Nerve biopsies may show: Inflammatory infiltrates. Acute axonal degeneration. Diagnosis Clinical suspicion: History of recurrent, episodic brachial plexopathy with characteristic pain and proximal weakness. Family...

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

  11. Central Core Disease (CCD)https://cnke.org/articles/220

    CCD. Recessive mutations: Associated with severe neonatal-onset forms, often with respiratory failure and arthrogryposis. Diagnosis Clinical Evaluation: Assess motor milestones, muscle weakness, and skeletal deformities. Screen for hyper-CKemia....

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    • Author: Editor CNKE
    • Category: Articles

  12. Duchenne Muscular Dystrophyhttps://cnke.org/articles/225

    care has significantly improved life expectancy and quality of life in boys with DMD. Genetic Counseling and Prenatal Diagnosis Referral: All affected families and potential carriers should be referred for genetic counseling. Prenatal Diagnosis:...

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

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

    loss of ambulation, restrictive lung disease, cardiac arrhythmias, cognitive deficits, and retinal vasculopathy. Clinical Diagnosis: Serum CK: Normal or mildly elevated. EMG: Myopathic features (low amplitude, short-duration polyphasic potentials). NCS:...

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

  14. Stiff Person Syndromehttps://cnke.org/articles/235

    Syndromes: In some cases, SPS may be associated with cancers, such as breast cancer, suggesting a paraneoplastic origin. Diagnosis: Clinical assessment of rigidity and spasms. Serologic testing for GAD antibodies. EMG studies to confirm continuous...

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

  15. Neuroleptic Malignant Syndrome (NMS)https://cnke.org/articles/239

    lead to renal failure. Time Course: Symptoms develop over hours to days, slower than Malignant Hyperthermia. Differential Diagnosis: Serotonin Syndrome: Similar features caused by excessive serotonin activity, typically due to selective serotonin...

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

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

    Rett syndrome, a rare neurodevelopmental disorder predominantly affecting females, is characterized by profound physical and cognitive impairments. It was first described in 1966 by Dr. Andreas Rett, an Austrian pediatrician whose tireless work has...

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

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

    Guillaume-Benjamin-Amand Duchenne de Boulogne (September 17, 1806 – September 15, 1875) stands as one of the towering figures in the history of neurology, credited with groundbreaking advancements in electrophysiology and diagnostics. His relentless...

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

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

    of Clinical Electroencephalography. New York: Raven Press, 1990:139–199. Kellaway P, Fox BJ. Electroencephalographic diagnosis of cerebral pathology in infants during sleep. J Pediatr. 1952;41:262–287. Kooi KA, Tucker RP, Marshall RE. Fundamentals of...

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    • Author: Editor CNKE
    • Category: Articles

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

    periorbital area, mandible), pica, and knee-to-head hitting[2]. There is a direct link between problem behaviors and a diagnosis of intellectual disability, with around 25% of individuals with intellectual disability experiencing self-injurious...

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

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

    and specialized. However, clinical clues can point towards a mitochondrial disorder and fairly simple tests support the diagnosis sufficiently to proceed to specific investigations of mitochondrial function. To a certain extent there is a relationship...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 61 - 80 of 112