• Home
  • Topics
  • New
  • Forum
  • Quiz
  • About

Thursday, 09 January 2025

Main

  • Home
  • Topics
  • New
  • Forum
  • Quiz
  • About

Editor

Here are a few examples of how you can use the search feature:

Entering this and that into the search form will return results containing both "this" and "that".

Entering this not that into the search form will return results containing "this" and not "that".

Entering this or that into the search form will return results containing either "this" or "that".

Search results can also be filtered using a variety of criteria. Select one or more filters below to get started.

Assuming loss is required, the following 62 results were found.

  1. Charcot–Marie–Tooth disease (CMT)https://cnke.org/articles/214

    by degeneration of: Axon. Myelin sheath. Or both. Resulting Symptoms: Progressive, symmetrical distal weakness. Sensory loss. Areflexia (loss of reflexes). Genetic Basis Causative Mechanisms: Disorders of genes affecting: Myelin compaction and...

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

  2. Dravet syndromehttps://cnke.org/articles/180

    or cannot react to stimuli, have simple activities (toy manipulation and eating), interrupted by short episodes of complete loss of contact and staring. Strong sensory stimulations can interrupt but not stop the status. convulsive seizures could either...

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

  3. Infantile Spasms Syndromehttps://cnke.org/articles/269

    2016). Homozygous nonsense mutation in B3GALNT2 gene in a child with Walker-Warburg syndrome, ISs, and sensorineural hearing loss (Al Dhaibani MA et al., 2018) Complex Malformation Syndromes: Down Syndrome: Study of 183 Down syndrome patients revealed...

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

  4. Neurofibromatosishttps://cnke.org/articles/283

    in signaling pathways: SCF/c-kit signaling, mTOR, and MAPK pathways. Clinical Findings: Pathogenic variants result in loss of production or reduced function of neurofibromin. Complete penetrance but highly variable expression. Somatic mutation or loss...

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

  5. Dravet syndromehttps://cnke.org/articles/265

    or cannot react to stimuli, have simple activities (toy manipulation and eating), interrupted by short episodes of complete loss of contact and staring. Strong sensory stimulations can interrupt but not stop the status. convulsive seizures could either...

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

  6. Acquired Dysarthriahttps://cnke.org/articles/247

    moderate to severe TBI. Often accompanied by oromotor deficits, including cranial nerve dysfunction (e.g., facial, hypoglossal, vagus, and trigeminal nerves) Commonly accompanied by: Oromotor Deficits: Facial nerve: Buccal and labial movement....

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

  7. Migrainehttps://cnke.org/articles/37

    spectra, scotomata, scintillations, black dots, kaleidoscopic patterns, micropsia, macropsia, metamorphopsia), attention loss, confusion, amnesia, agitation, aphasia, ataxia, dizziness, vertigo, paresthesia, or hemiparesis. Duration and Intensity...

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

  8. Idiopathic Intracranial Hypertensionhttps://cnke.org/articles/178

    Frequently migrainous in phenotype; may persist after ICP normalization. Visual Alterations: Papilledema-induced visual loss, transient visual obscurations (TVOs), diplopia. Additional Features: Cranial nerve palsies (commonly sixth nerve palsy)....

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

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

    cranial nerve VI palsy is present). Signs: Fundoscopic examination: Blurring of optic disc margins. Hyperemia of the disc. Loss of the physiological optic cup. Retinal hemorrhages or cotton-wool spots (severe cases). Enlarged blind spot on perimetry....

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

  10. Mucopolysaccharidoses (MPS)https://cnke.org/articles/468

    delay, short stature, recurrent infections. Hepatosplenomegaly, coarse facial features (macrocephaly, thick eyebrows, macroglossia). Progressive symptoms: Hearing loss, cardiac valve disease, skeletal contractures. Dysostosis multiplex: Radiographic...

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

  11. Benign Paroxysmal Torticollis of Infancyhttps://cnke.org/articles/270

    reported a family with various presentations including BPTI and CACNA1A mutations. Vila-Pueyo et al. (2014) noted BPTI with loss of function mutations in the CACNA1A gene. Dale et al. (2012) described a child with BPTI and PRRT2 mutation who later...

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

  12. Incontinentia Pigmentihttps://cnke.org/articles/475

    3 years). Periodic neurologic assessments. Dental evaluations. Prevention: Early intervention for skin infections and vision loss. Address CNS complications proactively. Genotype-Phenotype Correlations Variants in exon 10: Milder phenotype in females,...

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

  13. The Diagnosis of Rett Syndromehttps://cnke.org/articles/154

    (RTT) is a rare neurodevelopmental disorder, primarily affecting females, characterized by developmental regression, loss of acquired skills, and stereotypic hand movements. Historical Milestones: 1966: First described by Dr. Andreas Rett. 1999:...

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

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

    ataxia, absent tendon reflexes, Babinski sign, scoliosis, pes cavus, impaired position and vibratory senses, hearing loss, optic neuropathy, diabetes, cardiomyopathy. LOFA & VLOFA: Normal tendon reflexes, Babinski sign, spastic ataxia. MRI Findings:...

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

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

    sign, and neck flexor weakness. Progression: Initial increase in motor skills until age 6, followed by progressive weakness. Loss of independent ambulation by age 13. Complications: Respiratory: Chronic restrictive lung disease, sleep-disordered...

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

  16. Alexander Diseasehttps://cnke.org/articles/253

    and feeding difficulties. Hypotonia, hyperexcitability, and myoclonus. Developmental failure or regression (may manifest as loss of the sucking reflex). Generalized, frequent, and/or intractable seizures. Elevated CSF protein levels. Gastrointestinal...

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

  17. PRRT2-Associated Disordershttps://cnke.org/articles/274

    Leads to a premature stop codon (reported in more than 75% of carriers, suggesting a mutational hotspot). Causes a protein loss-of-function mechanism due to gene haploinsufficiency. Evidence suggests that the c.649dupC-derived mRNA is degraded by...

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

  18. Narcolepsy-Cataplexyhttps://cnke.org/articles/241

    hallucinations, and sleep paralysis, although these symptoms do not necessarily occur together. Cataplexy is a sudden loss of muscle tone triggered by laughter or excitement, causing the patient to fall without losing consciousness. It must be...

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

  19. Fenfluraminehttps://cnke.org/articles/280

    as an adjunctive treatment for seizures in patients with Dravet syndrome. Appetite Suppressant: Previously used for weight loss (withdrawn due to adverse effects). Mechanism of Action Serotonin Release: Promotes the release of serotonin and inhibits its...

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

  20. cherry-red-spothttps://cnke.org/?view=article&id=118:350&catid=15

    red-tinted region at the center of the macula surrounded by retinal opacification, usually present due to the thickening and loss of transparency of the posterior pole of the retina. The differential diagnosis of cherry red spot includes: Vascular...

    • Type: Article
    • Author: Editor
    • Category: Image of the Week
Results 1 - 20 of 62