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Saturday, 04 January 2025

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Editor

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Assuming myotonic is required, and dystrophy is required, the following 5 results were found.

  1. Schwartz-Jampel Syndrome (SJS)https://cnke.org/articles/328

    Differential Diagnosis: Cramp and stiffness (Stiff person syndrome, Isaac's syndrome) Myotonic disorders (Congenital myotonic dystrophy, myotonic dystrophy, myotonia congenita, paramyotonia congenital) Muscular dystrophies (Becker dystrophy, Duchenne...

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

  2. Neuromuscular disorders in childrenhttps://cnke.org/articles/neuromuscular-disorders-in-children

    Polymyositis (rare in children) Overlap Syndromes (e.g., Mixed Connective Tissue Disease) Myotonic Disorders Myotonic Dystrophy Type 1 (DM1, Steinert Disease) Myotonic Dystrophy Type 2 Disorders of Ion Channels (Channelopathies) Periodic Paralyses...

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

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

    protein aggregates. Non-Coding Region Repeats: Disrupt transcription, splicing, or RNA function (e.g., Fragile X, Myotonic Dystrophy). Key Examples of Repeat Expansion Disorders in Child Neurology Fragile X Syndrome Gene: FMR1. Repeat: CGG (>200 for...

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

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

    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 derangements, Aicardi-Goutieres syndrome and...

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

  5. 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
Results 1 - 5 of 5