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Hemifacial Spasm
Hemifacial spasm (HFS) is a rare neuromuscular disease characterized by irregular, involuntary muscle contractions (spasms) on one side (hemi-) of the face (-facial). The facial muscles are controlled by the facial nerve (seventh cranial nerve), which originates at the brainstem and exits the skull below the ear where it separates into five main branches. This disease takes two forms: typical and atypical. In typical form, the twitching usually starts in the lower eyelid in orbicularis oculi muscle. As time progresses, it spreads to the whole lid, then to the orbicularis oris muscle around the lips, and buccinator muscle in the cheekbone area. The reverse process of twitching occurs in atypical hemifacial spasm; twitching starts in orbicularis oris muscle around the lips, and buccinator muscle in the cheekbone area in the lower face, then progresses up to the orbicularis oculi muscle in the eyelid as time progresses. The most common form is the typical form, and atypical form ...
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Neuromuscular Disease
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal muscle, all of which are components of the motor unit. Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or genetic. Mutations of more than 500 genes have shown to be causes of neuromuscular diseases. Other causes include nerve or muscle degeneration, autoimmunity, toxins, medications, malnutrition, metabolic derangements, hormone imbalances, infection, nerve compression/entrapment, comprised blood supply, and trauma. Signs and symptoms Symptoms of neuromuscular disease may include numbness, paresthesia, muscle weakness, muscle atrophy, myalgia (muscle pain), and fasciculations (muscle twitches). Causes Neuromuscular disease can be caused by autoimmune disorders, genetic/hereditary disorders and some forms of the collagen disorder Ehlers–Danlo ...
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Bell's Palsy
Bell's palsy is a type of facial paralysis that results in a temporary inability to control the facial muscles on the affected side of the face. In most cases, the weakness is temporary and significantly improves over weeks. Symptoms can vary from mild to severe. They may include muscle twitching, weakness, or total loss of the ability to move one or, in rare cases, both sides of the face. Other symptoms include drooping of the eyelid, a change in taste, and pain around the ear. Typically symptoms come on over 48 hours. Bell's palsy can trigger an increased sensitivity to sound known as hyperacusis. The cause of Bell's palsy is unknown and it can occur in any age. Risk factors include diabetes, a recent upper respiratory tract infection, and pregnancy. It results from a dysfunction of cranial nerve VII (the facial nerve). Many believe that this is due to a viral infection that results in swelling. Diagnosis is based on a person's appearance and ruling out other possible c ...
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Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms among all individuals with such mutation. For example, if a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will develop the disease, while 5% will not. A condition, most commonly inherited in an autosomal dominant manner, is said to show complete penetrance if clinical symptoms are present in all individuals who have the disease-causing mutation. A condition which shows complete penetrance is neurofibromatosis type 1 – every person who has a mutation in the gene will show symptoms of the condition. The penetrance is 100%. Common examples used to show degrees of penetrance are ...
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Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomple ...
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Genetic Predisposition
A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population under the influence of environmental conditions. In medicine, genetic susceptibility to a disease refers to a genetic predisposition to a health problem, which may eventually be triggered by particular environmental or lifestyle factors, such as tobacco smoking or diet. Genetic testing is able to identify individuals who are genetically predisposed to certain diseases. Behavior Predisposition is the capacity humans are born with to learn things such as language and concept of self. Negative environmental influences may block the predisposition (ability) one has to do some things. Behaviors displayed by animals can be influenced by genetic predispositions. Genetic predisposition towards certain human behaviors is scientifically investigated by attempts to identify patterns of human behavior that seem to be invaria ...
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Etiology
Etiology (pronounced ; alternatively: aetiology or ætiology) is the study of causation or origination. The word is derived from the Greek (''aitiología'') "giving a reason for" (, ''aitía'', "cause"); and ('' -logía''). More completely, etiology is the study of the causes, origins, or reasons behind the way that things are, or the way they function, or it can refer to the causes themselves. The word is commonly used in medicine (pertaining to causes of disease) and in philosophy, but also in physics, psychology, government, geography, spatial analysis, theology, and biology, in reference to the causes or origins of various phenomena. In the past, when many physical phenomena were not well understood or when histories were not recorded, myths often arose to provide etiologies. Thus, an etiological myth, or origin myth, is a myth that has arisen, been told over time or written to explain the origins of various social or natural phenomena. For example, Virgil's ''Aeneid'' i ...
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Vertebral Artery
The vertebral arteries are major arteries of the neck. Typically, the vertebral arteries originate from the subclavian arteries. Each vessel courses superiorly along each side of the neck, merging within the skull to form the single, midline basilar artery. As the supplying component of the ''vertebrobasilar vascular system'', the vertebral arteries supply blood to the upper spinal cord, brainstem, cerebellum, and posterior part of brain. Structure The vertebral arteries usually arise from the posterosuperior aspect of the central subclavian arteries on each side of the body, then enter deep to the transverse process at the level of the 6th cervical vertebrae (C6), or occasionally (in 7.5% of cases) at the level of C7. They then proceed superiorly, in the transverse foramen of each cervical vertebra. Once they have passed through the transverse foramen of C1 (also known as the atlas), the vertebral arteries travel across the posterior arch of C1 and through the suboccipi ...
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Seventh Cranial Nerve
The facial nerve, also known as the seventh cranial nerve, cranial nerve VII, or simply CN VII, is a cranial nerve that emerges from the pons of the brainstem, controls the muscles of facial expression, and functions in the conveyance of taste sensations from the anterior two-thirds of the tongue. The nerve typically travels from the pons through the facial canal in the temporal bone and exits the skull at the stylomastoid foramen. It arises from the brainstem from an area posterior to the cranial nerve VI (abducens nerve) and anterior to cranial nerve VIII (vestibulocochlear nerve). The facial nerve also supplies preganglionic parasympathetic fibers to several head and neck ganglia. The facial and intermediate nerves can be collectively referred to as the nervus intermediofacialis. The path of the facial nerve can be divided into six segments: # intracranial (cisternal) segment # meatal (canalicular) segment (within the internal auditory canal) # labyrinthine segmen ...
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Posterior Circulation Infarct
Posterior circulation infarct (POCI) is a type of cerebral infarction affecting the posterior circulation supplying one side of the brain. Posterior circulation stroke syndrome (POCS) refers to the symptoms of a patient who clinically appears to have had a posterior circulation infarct, but who has not yet had any diagnostic imaging (e.g. CT Scan) to confirm the diagnosis. It can cause the following symptoms: * Cranial nerve palsy AND contralateral motor/sensory defect * Bilateral motor or sensory defect * Eye movement problems (e.g.nystagmus) * Cerebellar dysfunction * Isolated homonymous hemianopia * Vertigo It has also been associated with deafness. See also * Stroke A stroke is a disease, medical condition in which poor cerebral circulation, blood flow to the brain causes cell death. There are two main types of stroke: brain ischemia, ischemic, due to lack of blood flow, and intracranial hemorrhage, hemorr ... * Artery of Percheron References External links ...
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Demyelinating Disease
A demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged. This damage impairs the conduction of signals in the affected nerves. In turn, the reduction in conduction ability causes deficiency in sensation, movement, cognition, or other functions depending on which nerves are involved. Demyelinating diseases can be caused by genetics, infectious agents, autoimmune reactions, and other unknown factors. Proposed causes for demyelination include genetics and environmental factors such as being triggered by a viral infection or chemical exposure. Organophosphate poisoning by commercial insecticides such as sheep dip, weed killers, and flea treatment preparations for pets, can also result in nerve demyelination. Chronic neuroleptic exposure may cause demyelination. Vitamin B12 deficiency may also result in dysmyelination. Demyelinating diseases are traditionally classified in two kinds: demyelinating myelinoclastic diseases and d ...
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Axon
An axon (from Greek ἄξων ''áxōn'', axis), or nerve fiber (or nerve fibre: see spelling differences), is a long, slender projection of a nerve cell, or neuron, in vertebrates, that typically conducts electrical impulses known as action potentials away from the nerve cell body. The function of the axon is to transmit information to different neurons, muscles, and glands. In certain sensory neurons ( pseudounipolar neurons), such as those for touch and warmth, the axons are called afferent nerve fibers and the electrical impulse travels along these from the periphery to the cell body and from the cell body to the spinal cord along another branch of the same axon. Axon dysfunction can be the cause of many inherited and acquired neurological disorders that affect both the peripheral and central neurons. Nerve fibers are classed into three types group A nerve fibers, group B nerve fibers, and group C nerve fibers. Groups A and B are myelinated, and group C are unmyelinated. ...
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Synapse
In the nervous system, a synapse is a structure that permits a neuron (or nerve cell) to pass an electrical or chemical signal to another neuron or to the target effector cell. Synapses are essential to the transmission of nervous impulses from one neuron to another. Neurons are specialized to pass signals to individual target cells, and synapses are the means by which they do so. At a synapse, the plasma membrane of the signal-passing neuron (the ''presynaptic'' neuron) comes into close apposition with the membrane of the target (''postsynaptic'') cell. Both the presynaptic and postsynaptic sites contain extensive arrays of Molecular biology, molecular machinery that link the two membranes together and carry out the signaling process. In many synapses, the presynaptic part is located on an axon and the postsynaptic part is located on a dendrite or soma (biology), soma. Astrocytes also exchange information with the synaptic neurons, responding to synaptic activity and, in turn, r ...
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