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Tuesday, 07 January 2025

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

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

    50% risk of transmitting pathogenic variants. Male lethality: Rarely survive due to somatic mosaicism or 47,XXY karyotype. Diagnosis Clinical Diagnosis: Presence of one major criterion (e.g., skin lesions in characteristic stages). Minor criteria:...

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  2. Cerebrotendinous Xanthomatosis (CTX)https://cnke.org/articles/146

    CYP27A1 mutation confirmation. Electrophysiology: Abnormal sensory, motor, visual evoked potentials. Suspicion Index Early diagnosis possible when specific combinations of symptoms are present (Mignarri et al., 2014). Suspicion Index in Cerebrotendinous...

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

    strands in DNM2- and BIN1-related CNM. Predominance of small type 1 fibers. May resemble fetal myotubes (in X-linked CNM). Diagnosis Clinical Evaluation: Assess for hypotonia, weakness, respiratory distress, and ophthalmoplegia. Look for skeletal and...

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

    due to their heterogeneity, but certain clinical patterns and diagnostic strategies can assist in narrowing down the diagnosis. Key Clinical Correlates Muscle Involvement: Proximal muscle weakness (shoulder and pelvic girdle) is characteristic. Patterns...

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

    Childhood Apraxia of Speech is a complex, multifactorial speech motor programming disorder. Its diagnosis and management require a multidisciplinary approach that integrates speech therapy, cognitive support, and, where appropriate, genetic evaluation....

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

    1p34-36.1. Protein Affected: Perlecan, a component of basement membranes, cartilage, and bone marrow stromal cells. Diagnosis Characteristic Triad: Facial dysmorphism, skeletal deformities, myotonic discharges. Differential Diagnosis: Cramp and...

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  7. Metabolic derangements and Autismhttps://cnke.org/articles/126

    Metabolic Disorders as ASD: Most metabolic disorders exhibit global developmental delay, a specific exclusion for an ASD diagnosis. These disorders also have many phenotypic features unrelated to ASD, suggesting specific syndromes rather than ASD....

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  8. Benign Familial Infantile Seizureshttps://cnke.org/articles/275

    Other Chromosomal Loci: Identified at chromosome 19q, 16p, and 1p. Diagnostic Methods Family History: Can orient the diagnosis. Electroencephalography (EEG): Ictal EEG shows partial seizures from the parietal-occipital region. Postictal EEG shows...

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  9. Illness Anxiety Disorder (IAD)https://cnke.org/articles/281

    others. Psychological Factors: Personal history of trauma or stress, personality traits such as a tendency toward anxiety. Diagnosis Clinical Assessment: Evaluation by a healthcare professional through interviews and questionnaires. Criteria: According...

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

    EMC (stimSFEMC) may be helpful if a decremental response is detected following repetitive nerve stimulation, and in the diagnosis of CMS has good sensitivity (0.88) and specificity (0.79). Unlike myasthenia, in neonatal botulism the weakness will not...

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  11. Investigations in Epileptic Encephalopathieshttps://cnke.org/articles/321

    Differential Diagnosis Epileptic encephalopathies presenting with seizures as prominent/unique symptom Vitamin or enzymatic cofactor dependency Pyridoxine dependent epilepsy Folinic acid responsive epilepsy Pyridoxal-5′-phosphate responsive epilepsy...

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  12. Zika Virus Infectionhttps://cnke.org/articles/353

    with active Zika virus transmission (source: CDC Jan 26, 2016) Zika Virus Testing Considerations and Classification The diagnosis of Zika virus infection is made through molecular and serologic testing (Hayes, 2009). This includes reverse...

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  13. Investigations in Neonatal Seizureshttps://cnke.org/articles/464

    In the absence of infection or haemorrhage, a CSF/plasma glucose ratio is strongly suggestive of a Glut1 deficiency. This diagnosis can be confirmed by specific mutation analysis or erythrocyte uptake studies. Cerebral creatine disorders An absent...

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  14. Glycosylphosphatidylinositol (GPI) Anchor and Glycosphingolipid (GSL) Related Disordershttps://cnke.org/articles/476

    in neurodevelopmental disorders, epilepsy, and systemic anomalies. Understanding these disorders aids in accurate diagnosis and personalized management. GPI Anchors: Role and Biosynthesis Role of GPI Anchors GPI anchors are glycolipid structures that...

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  15. Epilepsy in Rett Syndromehttps://cnke.org/articles/156

    Epileptic and Nonepileptic Events: RTT patients often experience nonepileptic paroxysmal events, which can complicate diagnosis. MECP2 Mutations: Epilepsy is more common in individuals without MECP2 mutations, often due to the early epileptic variant...

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  16. The Cherry Red Spothttps://cnke.org/articles/170

    in pediatric cases. Over time: Cherry-red spot becomes less prominent as ganglion cells degenerate. Differential Diagnosis True cherry-red spot: Pale perifoveal retina with a distinct reddish fovea. Mimicking conditions: Macular hemorrhage Macular hole...

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  17. Inherited Cerebellar Ataxias (ICAs)https://cnke.org/articles/184

    disability Genetic basis: Over 100 new entities described in the past 25 years, with up to 500 genes related to ataxias Diagnosis and Initial Approach Patient Assessment Collect detailed family medical history (three generations minimum) Perform...

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  18. Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)https://cnke.org/articles/215

    in rare cases. Nerve biopsy: Not routinely performed. Shows tomacula (focal thickening of myelin sheaths) in select cases. Diagnosis Clinical suspicion: Disproportionate response to minor trauma or pressure. History of similar symptoms in family...

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  19. Multiminicore Diseasehttps://cnke.org/articles/multiminicore-disease

    MmD: Gene: Ryanodine receptor 1 (RYR1). Inheritance: Autosomal Recessive (AR). Overlap with Central Core Disease (CCD). Diagnosis Clinical Evaluation: Weakness, hypotonia, and axial muscle involvement. Check for associated kyphoscoliosis and respiratory...

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

    stability. Related to other caveolinopathies, including Limb-Girdle Muscular Dystrophy type 1C (LGMD 1C) and hyperCKemia. Diagnosis: Clinical Assessment: Observation of characteristic rippling, mounding, and rolling muscle movements triggered by...

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Results 21 - 40 of 112