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Wednesday, 08 January 2025

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Assuming rare is required, and disorder is required, the following 84 results were found.

  1. Congenital Muscular Dystrophyhttps://cnke.org/articles/224

    Congenital Muscular Dystrophy refers to a group of neuromuscular disorders manifesting as hypotonia and muscle weakness within the first 2 years of life, often from birth. Definition and Presentation CMD refers to a group of neuromuscular disorders...

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

  2. 5,10-methenyltetrahydrofolate synthetase deficiencyhttps://cnke.org/articles/261

    normal genes from both parents: 25% chance. Risk is equal for males and females. Affected Populations Prevalence: Rare disorder with unknown frequency. Reported cases globally (e.g., Iran, Haiti, United States; ancestries include British Isles, France,...

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

  3. 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

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

    Rett syndrome, a rare neurodevelopmental disorder predominantly affecting females, is characterized by profound physical and cognitive impairments. It was first described in 1966 by Dr. Andreas Rett, an Austrian pediatrician whose tireless work has...

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

  5. The Normal EEG in Childrenhttps://cnke.org/articles/25

    Introduction Paediatric EEG Normal Awake 3-12 months 14 months-2years 3-4 years 5-10 years 11-16 years Hyperventilation Normal Drowsiness, Sleep, Arousal Drowsy patterns Burst Drowsy Patterns V Waves Spindles V Waves and Spindles Positive Occipital...

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

  6. Familial (Autosomal Dominant) Focal Epilepsieshttps://cnke.org/articles/357

    Overview: Temporal lobe epilepsy was traditionally considered an acquired condition. Causes include lesions such as: Hippocampal sclerosis Tumours Trauma Vascular malformations Malformations of cortical development Recent research has highlighted the...

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

  7. Dentatorubral-Pallidoluysian Atrophy (DRPLA)https://cnke.org/articles/211

    DRPLA (dentatorubral-pallidoluysian atrophy) is a progressive neurologic disorder characterized by ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. Overview Hallmark features Ataxia Cognitive decline Myoclonus...

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

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

    Introduction Revolutionized Treatment: Introduced in the early 1960s. Significant impact on the treatment of generalized epilepsies. Chemical Composition: Valproic acid: 2-propyl pentanoic acid, 2-propyl valeric acid. Initially used as an organic...

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

  9. Peripheral Nerve Hyperexcitability Syndromeshttps://cnke.org/articles/234

    share overlapping clinical and electrophysiological features. Isaacs Syndrome: A Key PNH Syndrome Isaacs syndrome is a rare disorder of continuous motor unit activity that primarily arises due to an acquired channelopathy. The condition is strongly...

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

  10. Pendular Nystagmushttps://cnke.org/articles/462

    Definition Pendular nystagmus is a form of involuntary eye movement characterized by oscillations of equal speed in both directions, resembling a pendulum's motion. It can affect one or both eyes and is typically seen in neurological or sensory...

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

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

    Introduction Definition: Rare X-linked genetic disorder affecting the skin, hair, teeth, nails, eyes, and CNS. Prevalence: Reported prevalence: ~1.2/100,000 in Europe. Female:Male ratio: 20:1. High penetrance with variable expressivity. Demographics:...

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

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

    Overview Nemaline Myopathy (NM): A congenital myopathy characterized by rod-like inclusions (nemaline bodies) in skeletal muscle fibers. Inheritance: Autosomal dominant (AD), autosomal recessive (AR), or sporadic (new dominant mutations). Pathogenesis:...

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

  13. Kufor-Rakeb Syndrome https://cnke.org/articles/53

    Overview Kufor-Rakeb Syndrome (KRS), also known as PARK9, is a rare neurodegenerative disorder caused by mutations in the ATP13A2 gene. It was first reported by Nisipeanu et al. in 1994. Clinical Features The initial symptoms of KRS typically include:...

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

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

    The Diagnosis of Rett Syndrome (RTT) Introduction Definition: Rett Syndrome (RTT) is a rare neurodevelopmental disorder, primarily affecting females, characterized by developmental regression, loss of acquired skills, and stereotypic hand movements....

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

  15. Hopkins syndromehttps://cnke.org/articles/hopkins-syndrome

    Introduction Hopkins Syndrome (HS) represents an exceedingly rare neurological disorder characterized by the abrupt onset of acute flaccid paralysis (AFP) typically subsequent to an exacerbation of asthma. The condition predominantly affects the...

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

  16. 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

  17. Insomnia in childrenhttps://cnke.org/articles/242

    Overview Insomnia, or difficulty in sleeping, is a common issue among young children, with approximately 30% experiencing periods of sleep disturbances before the age of five. This often manifests as difficulty falling asleep or staying asleep....

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

  18. Trigeminal autonomic cephalalgias https://cnke.org/articles/41

    Trigeminal autonomic cephalalgias (TACs) are a group of headache disorders characterized by repetitive, brief episodes of severe unilateral pain accompanied by ipsilateral autonomic symptoms such as rhinorrhea, nasal congestion, lacrimation, and...

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

  19. Ohtahara syndromehttps://cnke.org/articles/177

    Ohtahara syndrome is a rare electroclinical epilepsy syndrome with onset in the neonatal period. It is also known as early infantile epileptic encephalopathy (EIEE) or early infantile epileptic encephalopathy with burst suppression pattern. It is named...

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

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

    Introduction Beta-propeller protein-associated neurodegeneration (BPAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA). It was first described by Haack et al. in 2012, initially termed static encephalopathy of childhood with...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 41 - 60 of 84