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Changing muscle tone from floppy to rigid (decerebrate posturing) Hearing loss that leads to deafness; Failure to thrive; Feeding difficulties; Irritability and sensitivity to loud sounds; Severe seizures (may begin at a very early age) Unexplaine...
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Krabbe disease is an autosomal recessive disorder. Affected individuals have two nonfunctional copies of the GALC gene. Parents of an affected child are healthy carriers and therefore have one normal GALC gene and one nonfunctional GALC gene. When...
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Ninety percent of individuals with Krabbe disease have the infantile type. These infants usually have normal development in the first few months of life. Before six months of age, they become irritable, stiff, and rigid. They may have trouble eati...
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Ninety percent of individuals with Krabbe disease have the infantile type. These infants usually have normal development in the first few months of life. Before six months of age, they become irritable, stiff, and rigid. They may have trouble eati...
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Irritability is an excessive response to stimuli.
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A feeding disorder of infancy or early childhood is the failure of a young child to gain weight over time because he or she does not take in the proper amount of nutrients. However, no medical condition is causing the problem. See also: Poor feedi...
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Walking abnormalities are unusual and uncontrollable walk patterns, usually caused by diseases or injuries to the legs, feet, brain, spine, or inner ear.
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Muscle stiffness is feeling of tension and contraction in the muscles, that may limit normal range of motion. Sometimes muscles feel stiff after periods of vigorous use, for example athletic activities, physical labor or weight lifting.
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Spasticity is stiff or rigid muscles with exaggerated, deep tendon reflexes (for example, a knee-jerk reflex. The condition can interfere with walking, movement, or speech. See also: Muscle cramps
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Spasticity is a form of muscle overactivity. A spastic muscle is one in which a muscle resists being stretched out, and the resistance to stretch is greater the faster the muscle is moved. Spasticity is often used as an umbrella term for other for...
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Spasticity is an abnormal increase in muscle tone. It may be associated with involuntary muscle spasms , sustained muscle contractions (dystonia), and exaggerated deep tendon reflexes that make movement difficult or uncontrollable. Although it mos...
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A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. See also: Generalized tonic clonic seizure; Partial (focal) seizure; Petit mal (absence) seizure; Epilepsy; Fever (...
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A seizure is a sudden change in behavior characterized by changes in sensory perception (sense of feeling) or motor activity (movement) due to an abnormal firing of nerve cells in the brain. Epilepsy is a condition characterized by recurrent seizu...
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A seizure is a sudden change in behavior characterized by changes in sensory perception (sense of feeling) or motor activity (movement) due to an abnormal firing of nerve cells in the brain . Epilepsy is a condition characterized by recurrent seiz...
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A temporary series of uncontrollable muscle spasms brought on by unusual electrical activity in the brain. Also known as convulsion, clonic seizure, or tonic-clonic seizure. A seizure is characterized by a sudden episode of un- controllable brain ...
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Blindness is a lack of vision. It may also refer to a loss of vision that cannot be corrected with glasses or contact lenses. Partial blindness means you have very limited vision; Complete blindness means you cannot see anything and do not see lig...
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Total blindness is the inability to tell light from dark, or the total inability to see. Visual impairment or low vision is a severe reduction in vision that can't be corrected with standard glasses or contact lenses and reduces a person's ability...
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Hearing loss is the total or partial inability to hear sound in one or both ears. See also: Hearing loss of aging
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Hearing loss is any degree of impairment of the ability to apprehend sound.
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Hearing loss is any degree of impairment of the ability to apprehend sound.
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Hearing loss is any degree of impairment of the ability to comprehend sound.
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True muscle weakness means that full effort does not produce a normal muscle contraction or movement. A voluntary muscle contraction is generated when the brain sends a signal through the spinal cord and nerves to a muscle.
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Weakness is a reduction in the strength of one or more muscles.
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Fever of unknown origin (FUO) refers to the presence of a documented elevation in body temperature for a specified time, for which a cause has not been found after basic medical evaluation. FUO is categorized as classic, hospital acquired FUO; FUO...
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Fever of unknown origin (FUO) refers to the presence of a documented fever for a specified time, for which a cause has not been found after a basic medical evaluation. The classic criteria developed in 1961 included: temperature greater than 101°F...
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