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Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be autosomal dominant neuromuscular disease or autosomal recessive. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene.update 2014 Autosomal dominant inheritance is the most common form of inheritance. Less commonly, OPMD can be inherited in an autosomal recessive pattern, which means that two copies of the mutated gene need to be present in each cell, both parents need to be carriers of the mutated gene, and usually show no signs or symptoms. The PABPN1 mutation contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat which then leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease.https:/ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
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 incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inferior Oblique Muscle
The inferior oblique muscle or obliquus oculi inferior is a thin, narrow muscle placed near the anterior margin of the floor of the orbit. The inferior oblique is one of the extraocular muscles, and is attached to the maxillary bone (origin) and the posterior, inferior, lateral surface of the eye (insertion). The inferior oblique is innervated by the inferior branch of the oculomotor nerve. Structure The inferior oblique arises from the orbital surface of the maxilla, lateral to the lacrimal groove. Unlike the other extraocular muscles (recti and superior oblique), the inferior oblique muscle does ''not'' originate from the common tendinous ring (annulus of Zinn). Passing lateralward, backward, and upward, between the inferior rectus and the floor of the orbit, and just underneath the lateral rectus muscle, the inferior oblique inserts onto the scleral surface between the inferior rectus and lateral rectus. In humans, the muscle is about 35 mm long. Innervation The i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anatomical Terms Of Location
Standard anatomical terms of location are used to unambiguously describe the anatomy of animals, including humans. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position provides a definition of what is at the front ("anterior"), behind ("posterior") and so on. As part of defining and describing terms, the body is described through the use of anatomical planes and anatomical axes. The meaning of terms that are used can change depending on whether an organism is bipedal or quadrupedal. Additionally, for some animals such as invertebrates, some terms may not have any meaning at all; for example, an animal that is radially symmetrical will have no anterior surface, but can still have a description that a part is close to the middle ("proximal") or further from the middle ("distal"). International organisations have determined vocabularies that are often used as standard vocabularies for subdisciplines of anatom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysphagia
Dysphagia is difficulty in swallowing. Although classified under "symptoms and signs" in ICD-10, in some contexts it is classified as a disease#Terminology, condition in its own right. It may be a sensation that suggests difficulty in the passage of solids or liquids from the mouth to the stomach, a lack of Pharynx, pharyngeal sensation or various other inadequacies of the swallowing mechanism. Dysphagia is distinguished from other symptoms including odynophagia, which is defined as painful swallowing, and Globus Pharyngis, globus, which is the sensation of a lump in the throat. A person can have dysphagia without odynophagia (dysfunction without pain), odynophagia without dysphagia (pain without dysfunction) or both together. A psychogenic disease, psychogenic dysphagia is known as phagophobia. Classification Dysphagia is classified into the following major types: # Oropharyngeal dysphagia # Esophageal dysphagia, Esophageal and obstructive dysphagia # Neuromuscular symptom comp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Extraocular Muscles
The extraocular muscles (extrinsic ocular muscles), are the seven extrinsic muscles of the human eye. Six of the extraocular muscles, the four recti muscles, and the superior and inferior oblique muscles, control movement of the eye and the other muscle, the levator palpebrae superioris, controls eyelid elevation. The actions of the six muscles responsible for eye movement depend on the position of the eye at the time of muscle contraction. Structure Since only a small part of the eye called the fovea provides sharp vision, the eye must move to follow a target. Eye movements must be precise and fast. This is seen in scenarios like reading, where the reader must shift gaze constantly. Although under voluntary control, most eye movement is accomplished without conscious effort. Precisely how the integration between voluntary and involuntary control of the eye occurs is a subject of continuing research."eye, human."Encyclopædia Britannica from Encyclopædia Britannica 2006 Ulti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ptosis (eyelid)
Ptosis, also known as blepharoptosis, is a drooping or falling of the upper eyelid. The drooping may be worse after being awake longer when the individual's muscles are tired. This condition is sometimes called "lazy eye", but that term normally refers to the condition amblyopia. If severe enough and left untreated, the drooping eyelid can cause other conditions, such as amblyopia or astigmatism. This is why it is especially important for this disorder to be treated in children at a young age, before it can interfere with vision development. The term is from Greek 'fall, falling'. Signs and symptoms Signs and symptoms typically seen in this condition include: * The eyelid(s) may appear to droop. * Droopy eyelids can give the face a false appearance of being fatigued, disinterested, or even sinister. * The eyelid may not protect the eye as effectively, allowing it to dry out. * Sagging upper eyelids can partially block the person's field of view. * Obstructed vision may cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orbit (anatomy)
In anatomy, the orbit is the cavity or socket of the skull in which the eye and its appendages are situated. "Orbit" can refer to the bony socket, or it can also be used to imply the contents. In the adult human, the volume of the orbit is , of which the eye occupies . The orbital contents comprise the eye, the orbital and retrobulbar fascia, extraocular muscles, cranial nerves II, III, IV, V, and VI, blood vessels, fat, the lacrimal gland with its sac and duct, the eyelids, medial and lateral palpebral ligaments, cheek ligaments, the suspensory ligament, septum, ciliary ganglion and short ciliary nerves. Structure The orbits are conical or four-sided pyramidal cavities, which open into the midline of the face and point back into the head. Each consists of a base, an apex and four walls."eye, human."Encyclopædia Britannica from Encyclopædia Britannica 2006 Ultimate Reference Suite DVD 2009 Openings There are two important foramina, or windows, two important fissu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Levator Palpebrae Superioris Muscle
The levator palpebrae superioris ( la, elevating muscle of upper eyelid) is the muscle in the orbit that elevates the upper eyelid. Structure The levator palpebrae superioris originates from inferior surface of the lesser wing of the sphenoid bone, just above the optic foramen. It broadens and decreases in thickness (becomes thinner) and becomes the levator aponeurosis. This portion inserts on the skin of the upper eyelid, as well as the superior tarsal plate. It is a skeletal muscle. The superior tarsal muscle, a smooth muscle, is attached to the levator palpebrae superioris, and inserts on the superior tarsal plate as well. Blood supply The levator palebrae superioris receives its blood supply from branches of the ophthalmic artery, specifically, muscular branches and the supraorbital artery. Blood is drained into the superior ophthalmic vein. Nerve supply The levator palpebrae superioris receives motor innervation from the superior division of the oculomotor nerve. The smoo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anterior Chamber Of Eyeball
The anterior chamber (Optometric Abbreviations#AC, AC) is the aqueous humor-filled space inside the human eye, eye between the iris (anatomy), iris and the cornea's innermost surface, the Corneal endothelium, endothelium. Hyphema, Uveitis, anterior uveitis and glaucoma are three main pathologies in this area. In hyphema, blood fills the anterior chamber as a result of a hemorrhage, most commonly after a blunt eye injury. Anterior uveitis is an inflammatory process affecting the iris (anatomy), iris and ciliary body, with resulting inflammatory signs in the anterior chamber. In glaucoma, blockage of the trabecular meshwork prevents the normal outflow of aqueous humour, resulting in increased intraocular pressure, progressive damage to the optic nerve head, and eventually blindness. The depth of the anterior chamber of the eye varies between 1.5 and 4.0 mm, averaging 3.0 mm. It tends to become shallower at older age and in eyes with Far-sightedness, hypermetropia (far sight ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pupil
The pupil is a black hole located in the center of the iris of the eye that allows light to strike the retina.Cassin, B. and Solomon, S. (1990) ''Dictionary of Eye Terminology''. Gainesville, Florida: Triad Publishing Company. It appears black because light rays entering the pupil are either absorbed by the tissues inside the eye directly, or absorbed after diffuse reflections within the eye that mostly miss exiting the narrow pupil. The term "pupil" was coined by Gerard of Cremona. In humans, the pupil is round, but its shape varies between species; some cats, reptiles, and foxes have vertical slit pupils, goats have horizontally oriented pupils, and some catfish have annular types. In optical terms, the anatomical pupil is the eye's aperture and the iris is the aperture stop. The image of the pupil as seen from outside the eye is the entrance pupil, which does not exactly correspond to the location and size of the physical pupil because it is magnified by the cornea. On the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Iris (eye)
In humans and most mammals and birds, the iris (plural: ''irides'' or ''irises'') is a thin, annular structure in the eye, responsible for controlling the diameter and size of the pupil, and thus the amount of light reaching the retina. Eye color is defined by the iris. In optical terms, the pupil is the eye's aperture, while the iris is the diaphragm. Structure The iris consists of two layers: the front pigmented fibrovascular layer known as a stroma and, beneath the stroma, pigmented epithelial cells. The stroma is connected to a sphincter muscle (sphincter pupillae), which contracts the pupil in a circular motion, and a set of dilator muscles (dilator pupillae), which pull the iris radially to enlarge the pupil, pulling it in folds. The sphincter pupillae is the opposing muscle of the dilator pupillae. The pupil's diameter, and thus the inner border of the iris, changes size when constricting or dilating. The outer border of the iris does not change size. The constrictin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Globe (human Eye)
The globe of the eye, or bulbus oculi, is the eyeball apart from its appendages. A hollow structure, the bulbus oculi is composed of a wall enclosing a cavity filled with fluid with three coats: the sclera, choroid, and the retina. Normally, the bulbus oculi is bulb-like structure. However, the bulbus oculi is not completely spherical. Its anterior surface, transparent and more curved, is known as the cornea of the bulbus oculi. See also * Sclera * Choroid * Retina The retina (from la, rete "net") is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then ... References {{DEFAULTSORT:Globe (Human Eye) Human eye anatomy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
