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Tuesday, 07 January 2025

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Editor

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

  1. Fragile X Syndromehttps://cnke.org/articles/578

    connective tissue abnormalities. Behavioral issues can lead to significant social and academic challenges. Differential Diagnosis Includes conditions with overlapping symptoms, such as: Sotos syndrome Prader-Willi syndrome Rett syndrome Autism Trisomy...

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

  2. Helmet therapy for cranial deformitieshttps://cnke.org/articles/helmet-therapy-for-cranial-deformities

    therapy is a valuable tool in managing moderate to severe positional plagiocephaly when conservative measures fail. Early diagnosis and timely intervention are crucial for optimal outcomes. Multidisciplinary care ensures comprehensive management and...

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

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

    Key clinical features often include cerebellar ataxia and other systemic manifestations. MRI findings can assist in the diagnosis by revealing characteristic patterns of atrophy. The spectrum of spinocerebellar ataxias (SCAs) varies widely in clinical...

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

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

    by expanded CAG repeats in different genes. Clinical Features: Progressive ataxia, dysarthria, and eventual disability. Diagnosis Clinical Suspicion Family history of similar symptoms, earlier onset in successive generations (anticipation)....

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

  5. The Journey of Discovery: Unraveling Fragile X Syndromehttps://cnke.org/historical-vignettes/the-journey-of-discovery-unraveling-fragile-x-syndrome

    (FXTAS) in older adults and Fragile X-associated Primary Ovarian Insufficiency (FXPOI) in women. Advances in Screening and Diagnosis DNA-based testing for Fragile X Syndrome replaced older cytogenetic methods, allowing precise detection of full...

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

  6. Dentatorubral-Pallidoluysian Atrophy (DRPLA)https://cnke.org/articles/211

    Japanese populations Extremely rare outside Japanese populations Note: Absence of a known family history does not rule out diagnosis. Molecular Genetics Diagnostic Marker: Heterozygous abnormal CAG repeat expansion in the ATN1 gene Emerging Methods:...

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

  7. Nemaline Myopathy (NM)https://cnke.org/articles/219

    AD. Similar features as NM due to KBTBD13: Childhood onset. Proximal weakness. "Slowness" of muscle movement. Differential Diagnosis Other congenital myopathies with overlapping features: Centronuclear myopathy (e.g., MTM1, DNM2). Congenital fiber type...

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

  8. Congenital Fibre-Type Disproportion (CFTD)https://cnke.org/articles/congenital-fibre-type-disproportion-cftd

    in muscle fibre size. The key features and considerations for CFTD are summarized below: Overview CFTD is considered a diagnosis of exclusion. It is defined by: Histological Findings: A significant reduction in the size of type 1 (slow-twitch) muscle...

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

  9. Congenital Muscular Dystrophyhttps://cnke.org/articles/224

    Severe CMDs are associated with systemic involvement, including neurological, ocular, and cardiac manifestations. Accurate diagnosis requires integrating clinical, histological, and genetic data. Treatment focuses on symptom management, though future...

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

  10. Emery-Dreifuss Muscular Dystrophy (EDMD)https://cnke.org/articles/227

    and influenced by the degree of cardiac involvement, which is often the most critical determinant of outcomes. Early diagnosis and multidisciplinary management can help mitigate complications and improve quality of life.

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

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

    perisylvian or perirolandic polymicrogyria, cerebellar anomalies, Joubert syndrome, and brainstem dysgenesis. Differential Diagnosis: Childhood apraxia of speech and conditions like Worster-Drought syndrome, characterized by severe and persistent bulbar...

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

  12. Dysphoniahttps://cnke.org/articles/246

    neurological abnormalities are present but psychological stress or trauma impacts voice production. Key Considerations for Diagnosis and Management: Evaluation: Comprehensive examination of the vocal cords (e.g., laryngoscopy). Assessment of...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 101 - 112 of 112