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Muscle–eye–brain Disease
Muscle–eye–brain (MEB) disease, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), is a kind of rare congenital muscular dystrophy (CMD), largely characterized by hypotonia at birth. Patients have muscular dystrophy, central nervous system abnormalities and ocular abnormalities. The condition is degenerative. MEB is caused by mutations in the POMGnT1 gene, it is congenital and inherited as an autosomal recessive disorder. There is no cure for MEB. Supportive care mainly focuses on symptoms alleviation which varies in different clinical settings. Symptomatic treatment may include physiological therapies, occupational therapies, medications, and surgeries. The life expectancy of patients with MEB is 10-30 years old, although there have been cases with longer lifespans. Signs and symptoms The main signs and symptoms of MEB includes: * Muscle dystrophies: muscle weakness, hypotonia, muscle atrophy * Ocular abnormalities: lack ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inheritance
Inheritance is the practice of receiving private property, titles, debts, entitlements, privileges, rights, and obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequeathing private property and/or debts can be performed by a testator via will, as attested by a notary or by other lawful means. Terminology In law, an "heir" ( heiress) is a person who is entitled to receive a share of property from a decedent (a person who died), subject to the rules of inheritance in the jurisdiction where the decedent was a citizen, or where the decedent died or owned property at the time of death. The inheritance may be either under the terms of a will or by intestate laws if the deceased had no will. However, the will must comply with the laws of the jurisdiction at the time it was created or it will be declared invalid (for example, some states do not recognise handwritten wills as valid, or only in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electroencephalography
Electroencephalography (EEG) is a method to record an electrogram of the spontaneous electrical activity of the brain. The biosignal, bio signals detected by EEG have been shown to represent the postsynaptic potentials of pyramidal neurons in the neocortex and allocortex. It is typically non-invasive, with the EEG electrodes placed along the scalp (commonly called "scalp EEG") using the 10–20 system (EEG), International 10–20 system, or variations of it. Electrocorticography, involving surgical placement of electrodes, is sometimes called Electrocorticography, "intracranial EEG". Clinical interpretation of EEG recordings is most often performed by visual inspection of the tracing or quantitative EEG, quantitative EEG analysis. Voltage fluctuations measured by the EEG bioamplifier, bio amplifier and electrodes allow the evaluation of normal Brain activity and meditation, brain activity. As the electrical activity monitored by EEG originates in neurons in the underlying Huma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pachygyria
Pachygyria ( gyri) is a congenital malformation of the cerebral hemisphere. It results in unusually thick convolutions of the cerebral cortex. Typically, children have developmental delay and seizures, the onset and severity depending on the severity of the cortical malformation. Infantile spasms are common in affected children, as is intractable epilepsy. Presentation The term 'pachygyria' does not directly relate to a specific malformation but rather is used to generally describe physical characteristics of the brain in association with several neuronal migration disorders; most commonly disorders relating to varied degrees of lissencephaly. Lissencephaly is present in 1 of 85,470 births and the life span of those affected is short as only a few survive past the age of 20. Pachygyria is a condition identified by a type of cortical genetic malformation. Clinicians will subjectively determine the malformation based on the degree of malposition and the extent of thickened abno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ventriculomegaly
Ventriculomegaly is a brain condition that mainly occurs in the fetus when the lateral ventricles become dilated. The most common definition uses a width of the atrium of the lateral ventricle of greater than 10 mm. This occurs in around 1% of pregnancies. When this measurement is between 10 and 15 mm, the ventriculomegaly may be described as mild to moderate. When the measurement is greater than 15mm, the ventriculomegaly may be classified as more severe. Enlargement of the ventricles may occur for a number of reasons, such as loss of brain volume (perhaps due to infection or infarction), or impaired outflow or absorption of cerebrospinal fluid from the ventricles, called hydrocephalus or normal pressure hydrocephalus associated with conspicuous brain sulcus. Often, however, there is no identifiable cause. The interventricular foramen may be congenitally malformed, or may have become obstructed by infection, hemorrhage, or rarely tumor, which may impair the drainage ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoplasia
Hypoplasia (; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ. Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia Stedman's Medical Dictionary. lww.com Hypoplasia is similar to aplasia, but less severe. It is technically ''not'' the opposite of [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aplasia
Aplasia (; from Greek ''a'', "not", "no" + ''plasis'', "formation") is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process. Aplastic anemia is the failure of the body to produce blood cells. It may occur at any time, and has multiple causes. __TOC__ Types Pure red cell aplasia Pure red cell aplasia (PRCA) is caused by the selective destruction or inhibition of erythroid progenitor or precursor cells. It is characterized by anemia and reticulocytopenia and can be chronic or acute. Diamond–Blackfan anemia is a type of PRCA that occurs at birth. PRCA can be acquired as a primary disorder or as a result of another disorder. Immunosuppressive drugs, particularly corticosteroids, will usually result in a temporary or permanent remission. The final outcome is primarily determined by the underlying disorder. Aplasia cutis congenita Aplasia cutis congenita is a condition in which some or large portions of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medulla Oblongata
The medulla oblongata or simply medulla is a long stem-like structure which makes up the lower part of the brainstem. It is anterior and partially inferior to the cerebellum. It is a cone-shaped neuronal mass responsible for autonomic (involuntary) functions, ranging from vomiting to sneezing. The medulla contains the cardiovascular center, the respiratory center, vomiting and vasomotor centers, responsible for the autonomic functions of breathing, heart rate and blood pressure as well as the sleep–wake cycle. "Medulla" is from Latin, ‘pith or marrow’. And "oblongata" is from Latin, ‘lengthened or longish or elongated'. During embryonic development, the medulla oblongata develops from the myelencephalon. The myelencephalon is a secondary brain vesicle which forms during the maturation of the rhombencephalon, also referred to as the hindbrain. The bulb is an archaic term for the medulla oblongata. In modern clinical usage, the word bulbar (as in bulbar palsy) is r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebellum
The cerebellum (: cerebella or cerebellums; Latin for 'little brain') is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as it or even larger. In humans, the cerebellum plays an important role in motor control and cognition, cognitive functions such as attention and language as well as emotion, emotional control such as regulating fear and pleasure responses, but its movement-related functions are the most solidly established. The human cerebellum does not initiate movement, but contributes to motor coordination, coordination, precision, and accurate timing: it receives input from sensory systems of the spinal cord and from other parts of the brain, and integrates these inputs to fine-tune motor activity. Cerebellar damage produces disorders in fine motor skill, fine movement, sense of balance, equilibrium, list of human positions, posture, and motor learning in humans. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pons
The pons (from Latin , "bridge") is part of the brainstem that in humans and other mammals, lies inferior to the midbrain, superior to the medulla oblongata and anterior to the cerebellum. The pons is also called the pons Varolii ("bridge of Varolius"), after the Italian anatomist and surgeon Costanzo Varolio (1543–75). This region of the brainstem includes neural pathways and tracts that conduct signals from the brain down to the cerebellum and medulla, and tracts that carry the sensory signals up into the thalamus. Structure The pons in humans measures about in length. It is the part of the brainstem situated between the midbrain and the medulla oblongata. The horizontal ''medullopontine sulcus'' demarcates the boundary between the pons and medulla oblongata on the ventral aspect of the brainstem, and the roots of cranial nerves VI/VII/VIII emerge from the brainstem along this groove. The junction of pons, medulla oblongata, and cerebellum forms the cerebellopontine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mesencephalon
The midbrain or mesencephalon is the uppermost portion of the brainstem connecting the diencephalon and cerebrum with the pons. It consists of the cerebral peduncles, tegmentum, and tectum. It is functionally associated with vision, hearing, motor control, sleep and wakefulness, arousal (alertness), and temperature regulation.Breedlove, Watson, & Rosenzweig. Biological Psychology, 6th Edition, 2010, pp. 45-46 The name ''mesencephalon'' comes from the Greek ''mesos'', "middle", and ''enkephalos'', "brain". Structure The midbrain is the shortest segment of the brainstem, measuring less than 2cm in length. It is situated mostly in the posterior cranial fossa, with its superior part extending above the tentorial notch. The principal regions of the midbrain are the tectum, the cerebral aqueduct, tegmentum, and the cerebral peduncles. Rostral and caudal, Rostrally the midbrain adjoins the diencephalon (thalamus, hypothalamus, etc.), while Rostral and caudal, cau ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoplasia
Hypoplasia (; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ. Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia Stedman's Medical Dictionary. lww.com Hypoplasia is similar to aplasia, but less severe. It is technically ''not'' the opposite of [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizures
A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, or consciousness. Symptoms vary widely. Some seizures involve subtle changes, such as brief lapses in attention or awareness (as seen in absence seizures), while others cause generalized convulsions with loss of consciousness ( tonic–clonic seizures). Most seizures last less than two minutes and are followed by a postictal period of confusion, fatigue, or other symptoms. A seizure lasting longer than five minutes is a medical emergency known as status epilepticus. Seizures are classified as provoked, when triggered by a known cause such as fever, head trauma, or metabolic imbalance, or unprovoked, when no immediate trigger is identified. Recurrent unprovoked seizures define the neurological condition epilepsy. Clinical features Seizur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
