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WOREE Syndrome
WWOX-related epileptic encephalopathy, also known as WOREE syndrome, is a rare genetic developmental disorder. Its effects include drug-resistant epilepsy, developmental delay, ataxia, and premature death at ages 2-4 years. It is one of several disorders that can be caused by defects in the WWOX gene. It is a rare disease A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financi ..., with only 60 cases having been identified as of 2023. References Neurodevelopmental disorders Rare diseases Genetic diseases and disorders {{genetics-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Drug-resistant Epilepsy
Drug-resistant epilepsy (DRE), also known as refractory epilepsy, intractable epilepsy, or pharmacoresistant epilepsy, refers to a state in which an individual with a diagnosis of epilepsy is unresponsive to multiple first-line therapies. Based on the 2010 guidelines from the International League against Epilepsy (ILAE), DRE is officially diagnosed following a lack of therapeutic relief in the form of continued seizure burden after trialing at least two Antiepileptic drug, antiepileptic drugs (AEDs) at the appropriate dosage and duration. The probability that the next medication will achieve seizure freedom drops with every failed AED. For example, after two failed AEDs, the probability that the third will achieve seizure freedom is around 4%. Drug-resistant epilepsy is commonly diagnosed after several years of uncontrolled seizures; however, in most cases, it is evident much earlier. Approximately 30% of people with epilepsy have a drug-resistant form. Achieving seizure control in D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Global Developmental Delay
Global developmental delay is an umbrella term used when children are significantly delayed in two or more areas of development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech delay, speech, cognitive skills, and social and emotional development. There is usually a specific condition which causes this delay, such as cerebral palsy, Fragile X syndrome or other chromosome abnormality, chromosomal abnormalities. However, it is sometimes difficult to identify this underlying condition. Other terms associated with this condition are failure to thrive (which focuses on lack of weight gain and physical development), intellectual disability (which focuses on intellectual deficits and the changes they cause to development) and developmental disability (which can refer to both intellectual and physical disability altering development). Causes Developmental delay can be caused by learning disability, learning disabilities, in which ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxia
Ataxia (from Greek α- negative prefix+ -τάξις rder= "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum. These nervous system dysfunctions occur in several different patterns, with different results and different possible causes. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. Dystaxia is a mild degree of ataxia. Types Cerebellar The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum. The cerebellum is responsible for integrating a significant amount of neural information that is used to coordinate smoothly ongoing movements and to participate in motor planning. A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Child Mortality
Child mortality is the death of children under the age of five. The child mortality rate (also under-five mortality rate) refers to the probability of dying between birth and exactly five years of age expressed per 1,000 live births. It encompasses neonatal mortality and infant mortality (the probability of death in the first year of life). Reduction of child mortality is reflected in several of the United Nations' Sustainable Development Goals. Target 3.2 states that "by 2030, the goal is to end preventable deaths of newborns and children under 5 years of age with all countries aiming to reduce under‑5 mortality to as low as 25 per 1,000 live births." Child mortality rates have decreased in the last 40 years. Rapid progress has resulted in a significant decline in preventable child deaths since 1990 with the global under-5 mortality rate declining by over half between 1990 and 2016. While in 1990, 12.6 million children under age five died and in 2016, that number fell to 5 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WWOX
WW domain-containing oxidoreductase is an enzyme that in humans is encoded by the ''WWOX'' gene. Function WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 2 WW domains and a short-chain dehydrogenase/reductase domain (SRD). The highest normal expression of this gene is detected in hormonally regulated tissues such as testis, ovary, and prostate. This expression pattern and the presence of an SRD domain suggest a role for this gene in steroid metabolism. The encoded protein is more than 90% identical to the mouse protein, which is an essential mediator of tumor necrosis factor-alpha-induced apoptosis, suggesting a similar, important role in apoptosis for the human protein. In addition, there is evidence that this gene behaves as a suppressor of tumor growth. Alternative splicing of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest. While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodevelopmental Disorders
Neurodevelopmental disorders are a group of mental conditions negatively affecting the development of the nervous system, which includes the human brain, brain and spinal cord. According to the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (DSM-5) published in 2013, these conditions generally appear in ''early'' childhood, usually before children start school, and can persist into adulthood. The key characteristic of all these disorders is that they negatively impact a person's functioning in one or more domains of life (personal, social, academic, occupational) depending on the disorder and deficits it has caused. All of these disorders and their levels of impairment exist on a spectrum, and affected individuals can experience varying degrees of symptoms and deficits, despite having the same diagnosis. The DSM-5 classifies neurodevelopmental disorders into six overarching groups: Intellectual disability, intellectual, Comm ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Diseases
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest. While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
