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Joubert Syndrome
Joubert Syndrome Joubert Syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination. This disorder is characterized by absence or underdevelopment of a part of the brain named cerebellar vermis and a malformed brain stem. Features of this condition: ataxia -lack of muscle control-, an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations like extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. Retardation may be mild or moderate.
RELATED TERMS--------------------------------------
Syndrome
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.
Genetic
Hereditary. Having to do with the genes.
Brain
"That part of the central nervous system that is located within the cranium (skull). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called ""hemispheres."" "
Balance
A biological system that enables us to know where our bodies are in the environment and to maintain a desired position. Normal balance depends on information from the inner ear, other senses (such as sight and touch) and muscle movement.
Cerebellar
Pertaining to the cerebellum, the part of the brain in the back of the head between the cerebrum and the brain stem. The cerebellum controls balance for walking and standing and other complex motor functions.
Condition
The term "condition" has a number of biomedical meanings including the following: 1.An unhealthy state, such as in "this is a progressive condition." 2.A state of fitness, such as "getting into condition." 3.Something that is essential to the occurrence of something else; essentially a "precondition." 4.As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.
Ataxia
Ataxia is unsteady and clumsy motion of the limbs or trunk due to a failure of the fine coordination of muscle movements. The cerebellum is the center of the fine coordination of muscle movements, while the information emerging from it is carried to the muscles by the spinal cord and peripheral nerves, respectively. Therefore a disorder in either the spinal cord or in the peripheral nerves can cause ataxia.
Muscle
Tissue made up of bundles of long, slender cells that contract when stimulated.
Abnormal
Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer).
Breathing
The process of respiration, during which air is inhaled into the lungs through the mouth or nose due to muscle contraction, and then exhaled due to muscle relaxation.
Apnea
Temporary pause in breathing.
Tongue
The muscular organ attached to the floor of the mouth. Used to speak, chew, swallow and taste.
Hypotonia
Abnormally decreased tonicity, tension or strength; ocular hypotony refers to low intraocular pressure.
Palate
Hard and soft tissue forming the roof of the mouth.
Retardation
Delay or halt of any process such as mental or physical development.
SIMILAR TERMS--------------------------------------
PREVIOUS AND NEXT TERMS--------------------------------------
Jaundice
A condition in which the skin and the whites of the eyes become yellow, urine darkens, and the color of stool becomes lighter than normal. Jaundice occurs when the liver is not working properly or when a bile duct is blocked.
Jock itch
An infection of the skin caused by fungi that results in itchy, red, moist, well-marked patches in the groin area.
Joubert Syndrome
Jacket
Crown for a front tooth, usually made of porcelain.
Jaccoud's arthropathy
A non-destructive deforming arthropathy first described in relation to rheumatic fever. Now more commonly seen in relation to SLE.
JCA
Juvenile chronic arthritis - in individuals 16 years or less in age. Must have been present for at least 3 months.
J chain
A polypeptide involved in the polymerization of immunoglobulin molecules IgM and IgA.
Joining chain
A polypeptide involved in the polymerization of immunoglobulin molecules IgM and IgA.
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