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Dwarfism is a condition wherein an organism is exceptionally small, and mostly occurs in the animal kingdom. In humans, it is sometimes defined as an adult height of less than 147 centimetres, regardless of sex; the average adult height among people with dwarfism is 120 centimetres (4 ft). Disproportionate dwarfism is characterized by either short limbs or a short torso. In cases of proportionate dwarfism, both the limbs and torso are unusually small. Intelligence is usually normal, and most have a nearly normal life expectancy. People with dwarfism can usually bear children, though there are additional risks to the mother and child depending upon the underlying condition.
Micropsia is a condition affecting human visual perception in which objects are perceived to be smaller than they actually are. Micropsia can be caused by optical factors, by distortion of images in the eye, by changes in the brain, and from psychological factors. Dissociative phenomena are linked with micropsia, which may be the result of brain-lateralization disturbance.
Alice in Wonderland syndrome (AIWS), also known as Todd's syndrome or dysmetropsia, is a neurological disorder that distorts perception. People with this syndrome may experience distortions in their visual perception of objects, such as appearing smaller (micropsia) or larger (macropsia), or appearing to be closer (pelopsia) or farther (teleopsia) than they are. Distortion may also occur for senses other than vision.
Macropsia is a neurological condition affecting human visual perception, in which objects within an affected section of the visual field appear larger than normal, causing the person to feel smaller than they actually are. Macropsia, along with its opposite condition, micropsia, can be categorized under dysmetropsia. Macropsia is related to other conditions dealing with visual perception, such as aniseikonia and Alice in Wonderland Syndrome. Macropsia has a wide range of causes, from prescription and illicit drugs, to migraines and (rarely) complex partial epilepsy, and to different retinal conditions, such as epiretinal membrane. Physiologically, retinal macropsia results from the compression of cones in the eye. It is the compression of receptor distribution that results in greater stimulation and thus a larger perceived image of an object.
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs are also found in the fluids that lubricate joints.
Myoclonus is a brief, involuntary, irregular twitching of a muscle, a joint, or a group of muscles, different from clonus, which is rhythmic or regular. Myoclonus describes a medical sign and, generally, is not a diagnosis of a disease. It belongs to the hyperkinetic movement disorders, among tremor and chorea for example. These myoclonic twitches, jerks, or seizures are usually caused by sudden muscle contractions or brief lapses of contraction. The most common circumstance under which they occur is while falling asleep. Myoclonic jerks occur in healthy people and are experienced occasionally by everyone. However, when they appear with more persistence and become more widespread they can be a sign of various neurological disorders. Hiccups are a kind of myoclonic jerk specifically affecting the diaphragm. When a spasm is caused by another person it is known as a provoked spasm. Shuddering attacks in babies fall in this category.
Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses.
Hypotonia is a state of low muscle tone, often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy and/or occupational therapy for remediation.
Diplopia is the simultaneous perception of two images of a single object that may be displaced horizontally or vertically in relation to each other. Also called double vision, it is a loss of visual focus under regular conditions, and is often voluntary. However, when occurring involuntarily, it results in impaired function of the extraocular muscles, where both eyes are still functional, but they cannot turn to target the desired object. Problems with these muscles may be due to mechanical problems, disorders of the neuromuscular junction, disorders of the cranial nerves that innervate the muscles, and occasionally disorders involving the supranuclear oculomotor pathways or ingestion of toxins.
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. The syndrome is caused by a mutation in a gene on chromosome 10 that controls the body's production of fibroblast growth factor receptor 2 (FGFR2).
Vertigo is a condition in which a person has the sensation of movement or of surrounding objects moving when they are not. Often it feels like a spinning or swaying movement. It may be associated with nausea, vomiting, perspiration, or difficulties walking. It is typically worse when the head is moved. Vertigo is the most common type of dizziness.
Dysmetria is a lack of coordination of movement typified by the undershoot or overshoot of intended position with the hand, arm, leg, or eye. It is a type of ataxia. It can also include an inability to judge distance or scale.
Cortical blindness is the total or partial loss of vision in a normal-appearing eye caused by damage to the brain's occipital cortex. Cortical blindness can be acquired or congenital, and may also be transient in certain instances. Acquired cortical blindness is most often caused by loss of blood flow to the occipital cortex from either unilateral or bilateral posterior cerebral artery blockage and by cardiac surgery. In most cases, the complete loss of vision is not permanent and the patient may recover some of their vision. Congenital cortical blindness is most often caused by perinatal ischemic stroke, encephalitis, and meningitis. Rarely, a patient with acquired cortical blindness may have little or no insight that they have lost vision, a phenomenon known as Anton–Babinski syndrome.
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, and developmental regression – although the international definition requires only two out of these three elements.
Klüver–Bucy syndrome is a syndrome resulting from lesions of the medial temporal lobe, particularly Brodmann area 38, causing compulsive eating, hypersexuality, a compulsive need to insert inappropriate objects in the mouth (hyperorality), visual agnosia, and docility. Klüver–Bucy syndrome is more commonly found in rhesus monkeys, where the condition was first documented, than in humans. Pathology on the syndrome is still controversial with Norman Geschwind's theory and Muller theory offering different explanations for the condition. Treatment for Klüver–Bucy syndrome is usually with mood stabilizers, anti-psychotics and anti-depressants.
Chronic progressive external ophthalmoplegia (CPEO) is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis. In other people suffering from mitochondrial disease, CPEO occurs as part of a syndrome involving more than one part of the body, such as Kearns–Sayre syndrome. Occasionally CPEO may be caused by conditions other than mitochondrial diseases.
A vision disorder is an impairment of the sense of vision.
There are several forms of Epstein–Barr virus (EBV) infection. These include asymptomatic infections, the primary infection, infectious mononucleosis, and the progression of asymptomatic or primary infections to: 1) any one of various Epstein–Barr virus-associated lymphoproliferative diseases such as chronic active EBV infection, EBV+ hemophagocytic lymphohistiocytosis, Burkitt's lymphoma, and Epstein–Barr virus positive diffuse large B-cell lymphoma, not otherwise specified); 2) non-lymphoid cancers such as Epstein–Barr virus associated gastric cancer, soft tissue sarcomas, leiomyosarcoma, and nasopharyngeal cancers; and 3) Epstein–Barr virus-associated non-lymphoproliferative diseases such as some cases of the immune disorders of multiple sclerosis and systemic lupus erythematosis and the childhood disorders of Alice in Wonderland Syndrome and acute cerebellar ataxia.
Teleopsia is a vision perception disorder, in which objects appear much farther away than they are. Teleopsia is a disorder associated with dysmetropsia.
Illusory palinopsia is a subtype of palinopsia, a visual disturbance defined as the persistence or recurrence of a visual image after the stimulus has been removed. Palinopsia is a broad term describing a heterogeneous group of symptoms, which is divided into hallucinatory palinopsia and illusory palinopsia. Illusory palinopsia is likely due to sustained awareness of a stimulus and is similar to a visual illusion: the distorted perception of a real external stimulus.
References
- ↑ "Pelopsia". The Medical Dictionary. Retrieved 1 June 2015.
- ↑ Millodot, Michel (2009). Dictionary of Optometry and Visual Science (7th ed.). Butterworth-Heinemann. p. 450. ISBN 978-0702029585.
3. https://my.clevelandclinic.org/health/diseases/24491-alice-in-wonderland-syndrome-aiws
4. https://pubmed.ncbi.nlm.nih.gov/24666533/
5. https://inhn.org/about/central-office-cordoba-unit/education/carlos-morra-and-ernst-franzek-psychopathological-symptoms/pelopsia
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