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Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease. Other symp...
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PKU symptoms are caused by alterations or mutations in the genetic code for the PAH enzyme. Mutations in the PAH gene prevent the liver from producing adequate levels of the PAH enzyme needed to break down phenylalanine. The PAH gene and its PKU m...
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Untreated PKU patients develop a broad range of symptoms related to severely impaired cognitive function, sometimes referred to as mental retardation. Other symptoms can include extreme patterns of behavior, delayed speech development, seizures, a...
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Untreated PKU patients develop a broad range of symptoms related to severely impaired cognitive function, sometimes referred to as mental retardation. Other symptoms can include extreme patterns of behavior, delayed speech development, seizures, a...
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The underlying cause of PKU is mutation in the gene that tells the body to make the enzyme phenylalanine hydroxylase. This enzyme allows the body to break down phenylalanine and ultimately use it to build proteins. Normally, the first step in phen...
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Urine odor refers to the scent of the fluid excreted during urination. Urine odor varies. However, if you drink enough fluids and are otherwise healthy, urine does not usually have a strong smell.
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A developmental delay is any significant lag in a child ' s physical, cognitive, behavioral, emotional, or social development, in comparison with norms. Developmental delay refers to when a child ' s development lags behind established normal ranges for his or her age.
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Any delay in a child ' s physical, cognitive, behavioral, emotional, or social development, due to any number of reasons. Developmental delay refers to any significant retardation in a child ' s physical, cognitive, behavioral, emotional, or social development.
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Hyperactivity is a state of too much muscle activity. This term is also used to describe a situation when a particular portion of the body is too active, such as when a gland produces too much of its particular hormone. See also attention deficit hyperactivity disorder (ADHD) .
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Mental retardation is described as a condition that is diagnosed before age 18, and includes below-average general intellectual function, accompanied by impairment in the person?s ability to acquire the skills necessary for daily living.
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Mental retardation is a developmental disability that first appears in children under the age of 18. It is defined as an intellectual functioning level (as measured by standard tests for intelligence quotient) that is well below average and significant limitations in daily living skills (adaptive functioning).
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Mental retardation (MR) is a developmental disability that first appears in children under the age of 18. It is defined as a level of intellectual functioning (as measured by standard intelligence tests) that is well below average and results in significant limitations in the person ' s daily living skills (adaptive functioning).
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Mental retardation (MR) is a developmental disability that first appears in children under the age of 18. It is defined as a level of intellectual functioning (as measured by standard intelligence tests ) that is well below average and results in significant limitations in the person ' s daily living skills (adaptive functioning).
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Mental retardation is a developmental disability that first appears in children under the age of 18. It is defined as an intellectual functioning level (as measured by standard tests for intelligence quotient) that is well below average and significant limitations in daily living skills (adaptive functioning).
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(Also called sociocultural or cultural-familial retardation) Mild mental retardation attributed to environmental causes and generally involving some degree of psychosocial disadvantage. The majority of persons suffering from mental retardation fall into the category of familial retardation rather than that of clinical retardation, which usually has neurological or other organic causes.
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Below-average intellectual abilities that are present before the age of 18 and interfere with developmental processes and with the ability to function normally in daily life (adaptive behavior). The term mental retardation is commonly used to refer to people with an intelligence quotient (IQ) below 70.
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Microcephaly describes a head size (measured as the distance around the top of the head) significantly below normal for a person's age and sex, based on standardized charts.
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Detailed information on microcephaly, including causes, symptoms, and diagnosis
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Microcephaly is a neurological disorder where the distance around the largest portion of the head (the circumference) is less than should normally be the case in an infant or a child. The condition can be evident at birth, or can develop within the first few years following birth.
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A birth defect characterized by an abnormally small head, a receding forehead, and large ears and nose. The condition often signals an abnormally small brain and the presence of other disorders such as cerebral palsy.
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Spasticity is marked by stiff or rigid muscles and exaggerated, deep tendon reflexes. The condition can interfere with walking, movement, or speech. See also muscle spasticity .
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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.
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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.
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Rashes involve changes in the color or texture of your skin.
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The popular term for a group of spots or red, inflamed skin that is usually a symptom of an underlying condition or disorder. Often temporary, a rash is only rarely a sign of a serious problem.
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Infections, with bacteria or viruses, often cause rashes. Some of these infections are more serious than others. Fever is another sign of infection.
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very common in newborns (babies less than one month old). They can be bumps, blisters, or scaly patches; they can appear on the scalp, face, body and diaper area. Most rashes are not cause for concern, but some rashes need a doctor's attention.
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Rash is a popular term for a group of spots or an area of red, inflamed skin. A rash is usually a symptom of an underlying condition or disorder.
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The popular term for a group of spots or red, inflamed skin that is usually a symptom of an underlying condition or disorder. Often temporary, a rash is only rarely a sign of a serious problem.
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What are the symptoms of Paget's disease of the breast?
Mary Pickett, M.D., is a lecturer for Harvard Medical School and an assistant professor of medicine at Oregon Health & Science University in Portland, OR. At OHSU, she practices general internal medicine and teaches medical residents and students.
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How should you treat poison oak or ivy rashes?
Mary Pickett, M.D., is a lecturer for Harvard Medical School and an assistant professor of medicine at Oregon Health & Science University in Portland, OR. At OHSU, she practices general internal medicine and teaches medical residents and students.
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Can someone have shingles without a major rash ? just extreme skin sensitivity and itching?
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A seizure is a sudden change in behavior due to an excessive electrical activity in the brain.
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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 seizures that may include repetitive muscle jerking called convulsions.
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Detailed information on epilepsy and seizures, including the different types of seizures, causes, symptoms, diagnosis, and treatment
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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 seizures that may include repetitive muscle jerking called convulsions.
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Detailed information on epilepsy and seizures, including the different types of seizures, causes, symptoms, diagnosis, and treatment
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Detailed information on epilepsy and seizures, including the different types of seizures, causes, symptoms, diagnosis, and treatment
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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.
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Detailed information on epilepsy and seizures, including the different types of seizures, causes, symptoms, diagnosis, and treatment
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Children with epilepsy may have seizures only once in a while, or every day. Though seizures can be scary for parents and caregivers, they aren’t painful and are usually brief.
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First Aid: SeizuresA seizure results from a sudden rush of abnormal electrical signals in the brain. Symptoms may range from a minor daze to uncontrollable muscle spasms(convulsion).In some cases, the victim may even lose consciousness.
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Although not a psychiatric disorder, epilepsy has a psychiatric aspect. The link is manifested in similar, often overlapping, symptoms, so it is important that caregivers diagnose and treat their patients with care.
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People with certain mental conditions can experience seizures that appear to be epilepsy but are actually psychogenic seizures. Studies are finding ways to distinguish between the two types to facilitate proper treatment.
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How does estrogen use and menopause affect someone with a seizure disorder?
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Tremors are a type of involuntary shaking movement.
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Tremor is an unintentional (involuntary) rhythmical alternating movement that may affect the muscles of any part of the body. Tremor is caused by the rapid alternating contraction and relaxation of muscles and is a common symptom of diseases of the nervous system (neurologic disease).
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Tremor is an unintentional (involuntary), rhythmical alternating movement that may affect the muscles of any part of the body. Tremor is caused by the rapid alternating contraction and relaxation of muscles and is a common symptom of diseases of the nervous system (neuro-logic disease).
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Tremor is an unintentional (involuntary), rhythmical alternating movement that may affect the muscles of any part of the body. Tremor is caused by the rapid alternating contraction and relaxation of muscles and is a common symptom of diseases of the nervous system (neurologic disease).
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