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Tuesday, 07 January 2025

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Assuming differential is required, the following 71 results were found.

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

    (KBTBD13): 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...

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

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

    Testing: Identify mutations in: MTM1 (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:...

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

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

    impact DUX4 expression. Inheritance: 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.,...

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

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

    May indicate dominant or recessive inheritance. Significant inter- and intra-familial variability in phenotypes. Differential Diagnosis: Includes Duchenne/Becker muscular dystrophies, myotonic dystrophy, facioscapulohumeral muscular dystrophy (FSHD),...

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

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

    of cases, often requiring ventilatory support. Feeding difficulties, commonly necessitating gavage feeding. Diagnosis: Differential Diagnosis: Can be confused with congenital myopathies or muscular dystrophies. Facial weakness distribution and overall...

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

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

    follow-up with a neuromuscular specialist is recommended to monitor symptoms and prevent secondary complications. Differential Diagnosis: RMD must be distinguished from other neuromuscular disorders with similar symptoms: Limb-Girdle Muscular...

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

  7. Schwartz–Jampel Syndromehttps://cnke.org/articles/237

    such as short stature, facial dysmorphisms, and muscle stiffness. Genetic Testing: Confirms mutations in the HSPG2 gene. Differential Diagnosis: Conditions such as hyperekplexia, other congenital myopathies, and disorders affecting cartilage and muscle...

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

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

    is not well standardized for children. Genetic Testing: Tests for RYR1 and CACNA1S mutations are clinically available. Differential Diagnosis: Includes sepsis, hyperthermia, pheochromocytoma crisis, thyrotoxicosis, and anesthesia-induced rhabdomyolysis...

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

  9. Childhood Apraxia of Speech (CAS) or Verbal Dyspraxiahttps://cnke.org/articles/244

    speech assessment to identify: Inconsistent speech errors. Co-articulation difficulties. Prosodic abnormalities. Differential diagnosis should consider severe phonological disorders and spastic dysarthria. Therapeutic Approaches: Intensive and targeted...

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

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

    such as 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...

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

  11. Aphasia/Dysphasiahttps://cnke.org/articles/249

    agnosia. Severe regression in speech and spontaneous language. Associated EEG abnormalities (e.g., bitemporal spikes). Differential Diagnoses: Selective mutism, ASD regression, or deafness may mimic aphasia. Aphasia in herpes simplex encephalitis may...

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