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Thursday, 09 January 2025

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

  1. Pompe Diseasehttps://cnke.org/articles/470

    of life. Symptoms: Muscle weakness and hypotonia. Developmental delay. Feeding difficulties and failure to thrive. Macroglossia (enlarged tongue). Hypertrophic cardiomyopathy. Outcomes without treatment: Death from heart failure in the first year of...

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

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

    in specimens (i.e., brain tissue, placenta, and amniotic fluid) from several infants with microcephaly and from fetal losses in women infected with Zika virus during pregnancy (ECDC, 2015; Oliviera et al., 2016; Hennessey et al., 2016). The Brazil...

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

  3. Juvenile Myoclonic Epilepsyhttps://cnke.org/articles/49

    are short, bilateral jerking motions of the arms and legs, typically occurring 30 minutes to an hour after waking up without loss of consciousness. Absence Seizures: Often the first type to appear, usually occurring 3 to 5 years before the onset of...

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

  4. Progressive myoclonus epilepsy https://cnke.org/articles/258

    L, and S in vitro (Ritonja 1985). Histopathological studies in ULD patients: Findings: Cerebellar granular and Purkinje cell loss, gliosis, neuronal degeneration in various brain regions (Koskiniemi 1974b, Haltia 1969, Eldridge 1983). Genetic mutation...

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

  5. Lafora diseasehttps://cnke.org/articles/259

    speaking, behavioral changes, depression, apathy, and progressive dementia Disease progression: intractable myoclonus, loss of physical functions, severe cognitive decline Prognosis: Within 6 years, around half lose the ability to move voluntarily or...

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

  6. Valproatehttps://cnke.org/articles/287

    seizures. Adjunctive therapy for multiple seizure types, including absence seizures. Definitions: Simple Absence: Brief loss of consciousness with generalized epileptic discharges. Complex Absence: Includes additional clinical signs. Intravenous Use:...

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

  7. CNS Degenerative Disorders in Infancyhttps://cnke.org/articles/314

    protein (myelin) decreased. Xq22. Birth (perinatal) to 2 y. Eye rolling often shortly after birth. Head bobbing. Slow loss of intellect. Slowly developing optic atrophy. Hearing normal. Nystagmus. Head and body normal. Cerebellar signs Spasticity...

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

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

    may decrease behavioral problems in autism Core ASD symptoms Not yetb Hypervigilence, sleep disturbances, irritability, loss of appetite, psychosis (rare) aBenefits might be overall and not specific to autism bInsufficient evidence available. There are...

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

  9. Fabry Diseasehttps://cnke.org/articles/472

    LVH, arrhythmias, myocardial fibrosis (onset ~4th decade). Cerebrovascular: Stroke/TIA (~28.8 years). Other: Hearing loss, cornea verticillata, obstructive lung disease, mood disorders. Females: Variable severity due to X-inactivation skewing. Common...

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

  10. Rett Syndrome : Orthopaedic issueshttps://cnke.org/articles/157

    emerges later in life. Gait Abnormalities: Unsteady gait, toe-walking, and shuffling are common in those who can walk. Loss of ambulation is typical during the "late motor deterioration phase." Deformities: Neurological impairments and muscle imbalances...

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

  11. The History of Rett Syndromehttps://cnke.org/historical-vignettes/162

    a landmark paper in the Annals of Neurology in 1983 titled "A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases." This publication catalyzed global recognition of Rett...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  12. Neurological Reflexeshttps://cnke.org/articles/knowledge-maps/210

    upon tapping the Achilles tendon. Primitive Reflexes (Commonly Assessed in Infants) Moro Reflex - Startle response to sudden loss of support. Rooting Reflex - Turning the head towards a stimulus near the mouth. Sucking Reflex - Sucking movements in...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles (open)

  13. Aicardi-Goutières syndromehttps://cnke.org/articles/175

    delay Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills Skin manifestations include puffy swelling on the fingers, toes, and ears that resemble chilblains,...

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

  14. Chronic Daily Headache Disorderhttps://cnke.org/articles/39

    hypertension but can cause constipation and orthostatic hypotension. Topiramate: A good choice for patients needing weight loss, though it may cause cognitive clouding. Botulinum Toxin: Shows promise in reducing headache frequency and severity (Mack and...

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

  15. Pantothenate Kinase-Associated Neurodegeneration (PKAN)https://cnke.org/articles/46

    and asymmetrical lower limb dystonia. Cognitive deterioration is variable, often following a step-like pattern of skill loss, stabilization, and subsequent deterioration. Progressive disease may lead to status dystonicus, pigmentary retinopathy, and...

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

  16. PLA2G6-Associated Neurodegenerationhttps://cnke.org/articles/47

    of language and motor skills. Symptoms include a combination of upper and lower motor neuron signs, leading to the loss of reflexes, profound hypotonia, and marked leg wasting. Additional features include optic atrophy resulting in blindness,...

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

  17. Beta-propeller protein-associated neurodegeneration (BPAN)https://cnke.org/articles/48

    . Rett-like Features Rett-like features are observed in 28% of patients, characterized by developmental regression, loss of purposeful hand skills, stereotypic hand movements, and bruxism. Most cases do not meet all diagnostic criteria for Rett syndrome...

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

  18. Lennox-Gastaut Syndrome (LGS)https://cnke.org/articles/50

    children 4 years and older; effective against multiple seizure types. Topiramate: Broad-spectrum AED; associated with weight loss and cognitive slowing. First-Line Drugs: Valproate: Often considered the first choice; effective against myoclonic,...

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

  19. Benign familial neonatal epilepsyhttps://cnke.org/articles/266

    in the sodium channel subunit gene SCN2A are specific to ‘benign familial neonatal-infantile seizures’ Pathophysiology Loss of function of heteromeric voltage-gated potassium channels that reduce the potassium current impairs repolarisation of the...

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

  20. Genetic Epilepsy with Febrile Seizures Plus (GEFS+)https://cnke.org/articles/276

    (involuntary muscle twitches) Atonic seizures (sudden episodes of weak muscle tone) Absence seizures (short periods of loss of consciousness appearing as staring spells) Features of the GEFS+ Spectrum Simple Febrile Seizures Most common and mildest...

    • Type: Article
    • Author: Editor
    • Category: Home
Results 21 - 40 of 62