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Monday, 07 April 2025

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Assuming myotonic is required, and dystrophy is required, the following 19 results were found.

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

    be grouped as follows: Clinical and Neurophysiological Evidence of Myotonia: Dystrophic muscle disorders: Includes myotonic dystrophy, where weakness and myotonia coexist with systemic features (e.g., cataracts, cardiac abnormalities). Non-dystrophic...

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

  2. Myotonic Dystrophyhttps://cnke.org/articles/229

    Myotonic dystrophy (DM) is the most common form of myotonic myopathy, with an estimated prevalence of 1 in 7,000 people, though milder cases often go undiagnosed. Overview This multisystem disorder is inherited as an autosomal dominant trait and can...

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

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

    relaxation after contraction) and electrical myotonia (diagnosed via EMG) are present: Dystrophic Muscle Conditions: Myotonic Dystrophy Type 1 (DM1) Myotonic Dystrophy Type 2 (DM2) Non-Dystrophic Muscle Conditions (Channelopathies): Chloride Channel...

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

  4. 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 CNKE
    • Category: Articles

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

    and intra-familial variability in phenotypes. Differential Diagnosis: Includes Duchenne/Becker muscular dystrophies, myotonic dystrophy, facioscapulohumeral muscular dystrophy (FSHD), and juvenile acid maltase deficiency. Females with mild symptoms may...

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

  6. Neuromuscular disorders in childrenhttps://cnke.org/articles/knowledge-maps/195

    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: Knowledge Maps

  7. 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

  8. 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

  9. Dystrophia Myotonicahttps://cnke.org/topics/dystrophia-myotonica

    • Type: Tag
    • Author: Editor CNKE

  10. Myotonic Dystrophyhttps://cnke.org/topics/myotonic-dystrophy

    • Type: Tag
    • Author: Editor CNKE

  11. Congenital Myotonic Dystrophyhttps://cnke.org/topics/congenital-myotonic-dystrophy

    • Type: Tag
    • Author: Editor CNKE

  12. Classic Myotonic Dystrophyhttps://cnke.org/topics/classic-myotonic-dystrophy

    • Type: Tag
    • Author: Editor CNKE

  13. Mild Myotonic Dystrophyhttps://cnke.org/topics/mild-myotonic-dystrophy

    • Type: Tag
    • Author: Editor CNKE

  14. 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 CNKE
    • Category: Articles

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

    FSHD1: Mostly autosomal dominant, with 10–30% de novo cases. FSHD2: Often sporadic. Differential Diagnosis: Myotonic dystrophy, congenital/mitochondrial myopathies, and certain limb-girdle muscular dystrophies (e.g., LGMD2A). Management: Supportive...

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

  16. 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

  17. Rippling Muscle Disease (RMD)https://cnke.org/articles/232

    Rippling Muscle Disease (RMD) is a rare inherited muscle disorder classified as a caveolinopathy, primarily caused by mutations in the CAV3 gene, which encodes caveolin-3, a protein critical for muscle cell membrane stability. Key Clinical Features:...

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

  18. Malignant Hyperthermiahttps://cnke.org/articles/238

    Malignant hyperthermia (MH) is a life-threatening pharmacogenomic disorder triggered by certain anesthetic agents (e.g., halothane) or depolarizing muscle relaxants like succinylcholine. These agents cause uncontrolled calcium release in skeletal...

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

  19. Centronuclear Myopathies (CNMs)https://cnke.org/articles/centronuclear-myopathies-cnms

    (X-linked). DNM2 (autosomal dominant). RYR1, BIN1, or SPEG (autosomal recessive). Differential Diagnosis: Congenital myotonic dystrophy (exclude via genetic testing). Management Supportive Care: Respiratory support: Permanent ventilation for severe...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 1 - 19 of 19