|
PEHO Syndrome
PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) is an autosomal recessive and dominant, progressive neurodegenerative disorder that starts in the first few weeks or months of life. Early symptoms include infantile spasms, hyparrhythmia, and seizures, and optic atrophy. Other features include arrest of global developmental delay, severe intellectual deficit, encephalopathy, tapered fingers, and facial dysmorphism. There is no specific treatment for PEHO syndrome; only the symptoms associated with the syndrome can be managed. PEHO syndrome affects the Finnish population with an estimate of 1 in 78,000; cases have been described in non-Finnish persons and from other countries. Cause The cause of the Finnish-type PEHO syndrome is homozygous pathogenic variants in the '' ZNHIT3'' gene. Variants affecting the motor domain of '' KIF1A'' has also been suggested to cause full or partial phenotype of PEHO in others. There has been other pathog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodegeneration
A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies (like proteinopathy) and induced cell death. These similarities suggest that ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spasms, Infantile
Epileptic spasms is an uncommon-to-rare epileptic disorder in infants, children and adults. One of the other names of the disorder, West syndrome, is in memory of the English physician, William James West (1793–1848), who first described it in an article published in ''The Lancet'' in 1841. The original case actually described his own son, James Edwin West (1840–1860). Other names for it are "generalized flexion epilepsy", "infantile epileptic encephalopathy", "infantile myoclonic encephalopathy", "jackknife convulsions", "massive myoclonia" and "Salaam spasms". The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. West syndrome in modern usage is the triad of infantile spasms, a pathognomonic EEG pattern (called hypsarrhythmia), and developmental regression – although the international definition requires only two out of these three elements. The syndrome is age-relate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypsarrhythmia
Hypsarrhythmia is very chaotic and disorganized brain electrical activity with no recognizable pattern, whereas a normal brain electrical activity shows clear separation between each signal and visible pattern. It is an abnormal interictal pattern, consisting of high amplitude and irregular waves and spikes in a background of chaotic and disorganized activity seen on electroencephalogram (EEG), and frequently encountered in infants diagnosed with infantile spasms, although it can be found in other conditions such as tuberous sclerosis. Gibbs and Gibbs described hypsarrhythmia (originally spelled with one 'r') in 1952 as "...random high voltage waves and spikes. These spikes vary from moment to moment, both in time and in location. At time they appear to be focal, and a few seconds later they seem to originate from multiple foci. Occasionally the spike discharge becomes generalized, but it never appears as a rhythmically repetitive and highly organized pattern that could be confuse ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizures
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or neural oscillation, synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness (tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness (focal seizure), to a subtle momentary loss of awareness (absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Urinary incontinence, Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Optic Atrophy
Optic neuropathy is damage to the optic nerve from any cause. The optic nerve is a bundle of millions of fibers in the retina that sends visual signals to the brain. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. The main symptom is loss of vision, with colors appearing subtly washed out in the affected eye. A pale disc is characteristic of long-standing optic neuropathy. In many cases, only one eye is affected and patients may not be aware of the loss of color vision until the doctor asks them to cover the healthy eye. Optic neuropathy is often called optic atrophy, to describe the loss of some or most of the fibers of the optic nerve. Ischemic optic neuropathy In ischemic optic neuropathies, there is insufficient blood flow (ischemia) to the optic nerve. The anterior optic nerve is supplied by the short posterior ciliary artery and choroidal circulation, while the retrobulbar optic nerve is supplied intraorbitally by ... [...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 their cognitive development, cognitive and developmental biology, physical 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 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 disab ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mental Retardation
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and beh ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Encephalopathy
Encephalopathy (; from grc, ἐνκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain, especially chronic degenerative conditions. In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of overall brain dysfunction; this syndrome has many possible organic and inorganic causes. Signs and symptoms The hallmark of encephalopathy is an altered mental state or delirium. Characteristic of the altered mental state is impairment of the cognition, attention, orientation, sleep–wake cycle and consciousness. An altered state of consciousness may range from failure of selective attention to drowsiness. Hypervigilance may be present; with or without: cognitive deficits, headache, epileptic seizures, myoclonus (involuntary twitching of a muscle or group of muscles) or asterixis ("flapping tremor" of the hand when wrist is extended). Depending on the type and severity of encephalopathy, common neurological sym ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Finnish Heritage Disease
A Finnish heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden ( Meänmaa) and Russia ( Karelia and Ingria). There are 36 rare diseases regarded as Finnish heritage diseases. The diseases are not restricted to Finns; they are genetic diseases with far wider distribution in the world, but due to founder effects and genetic isolation they are more common in Finns. Within Finland these diseases are more common in the east and north, consistent with their higher association with ethnic Finns than with ethnic Swedes. The Finnish disease heritage does not extend to other ethnic groups in the region, the Sámi and Karelians other than Finnish Karelians. It is attributed to a population bottleneck among ancestors of modern Finns, estimated to have occurred about 4000 years ago, presumably when populations practicing agriculture and animal husbandry arrived in Finland. In Finlan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KIF1A
Kinesin-like protein KIF1A, also known as axonal transporter of synaptic vesicles or microtubule-based motor KIF1A, is a protein that in humans is encoded by the ''KIF1A'' gene. KIF1A is a neuron-specific member of the kinesin-3 family and is a microtubule plus end-directed motor protein involved in the anterograde, long-distance transport of vesicles and organelles. Similar to other kinesin proteins, KIF1A harnesses the chemical energy released from Adenosine Triphosphate (ATP) hydrolysis to create mechanical force, allowing it to “walk” along microtubule filaments to transport cargo from the neuron cell body to its periphery. With an important role in the brain, KIF1A function is essential for physiological processes, such as neuronal survival and higher brain function. History KIF1A was originally discovered in C. elegans as UNC-104 in 1991 as a possible novel kinesin paralog acting as a motor in the nervous system. In 1995, human KIF1A was first identified to be a monome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Symptomatic Treatment
Symptomatic treatment, supportive care, supportive therapy, or palliative treatment is any medical therapy of a disease that only affects its symptoms, not the underlying cause. It is usually aimed at reducing the signs and symptoms for the comfort and well-being of the patient, but it also may be useful in reducing organic consequences and sequelae of these signs and symptoms of the disease. In many diseases, even in those whose etiologies are known (e.g., most viral diseases, such as influenza and Rift Valley fever), symptomatic treatment is the only treatment available so far. For more detail, see supportive therapy. For conditions like cancer, arthritis, neuropathy, tendinopathy, and injury, it can be useful to distinguish treatments that are supportive/palliative and cannot alter the natural history of the disease (disease modifying treatments). Examples Examples of symptomatic treatments: * Analgesics, to reduce pain * Anti-inflammatory agents, for inflammation caused by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
