Dopamine beta-hydroxylase deficiency
Aug. 17, 2022
3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
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What is cerebral palsy?
Cerebral palsy refers to a group of neurological disorders that appear in infancy or early childhood and permanently affect body movement and muscle coordination Cerebral palsy (CP) is caused by damage to or abnormalities inside the developing brain that disrupt the brain’s ability to control movement and maintain posture and balance. The term cerebral refers to the brain; palsy refers to the loss or impairment of motor function.
Cerebral palsy affects the motor area of the brain’s outer layer (called the cerebral cortex), the part of the brain that directs muscle movement.
In some cases, the cerebral motor cortex hasn’t developed normally during fetal growth. In others, the damage is a result of injury to the brain either before, during, or after birth. In either case, the damage is not repairable and the disabilities that result are permanent.
Children with cerebral palsy exhibit a wide variety of symptoms, including:
The symptoms of CP differ in type and severity from one person to the next, and may even change in an individual over time. Symptoms may vary greatly among individuals, depending on which parts of the brain have been injured. All people with cerebral palsy have problems with movement and posture, and some also have some level of intellectual disability, seizures, and abnormal physical sensations or perceptions, as well as other medical disorders. People with CP also may have impaired vision or hearing, and language, and speech problems.
CP is the leading cause of childhood disabilities, but it doesn’t always cause profound disabilities. While one child with severe CP might be unable to walk and need extensive, lifelong care, another child with mild CP might be only slightly awkward and require no special assistance. The disorder isn’t progressive, meaning it doesn’t get worse over time. However, as the child gets older, certain symptoms may become more or less evident.
A study by the Centers for Disease Control and Prevention shows the average prevalence of cerebral palsy is 3.3 children per 1,000 live births.
There is no cure for cerebral palsy, but supportive treatments, medications, and surgery can help many individuals improve their motor skills and ability to communicate with the world.
What are the early signs?
The signs of cerebral palsy usually appear in the early months of life, although specific diagnosis may be delayed until age two years or later. Infants with CP frequently have developmental delay, in which they are slow to reach developmental milestones such as learning to roll over, sit, crawl, or walk. Some infants with CP have abnormal muscle tone. Decreased muscle tone (hypotonia) can make them appear relaxed, even floppy. Increased muscle tone (hypertonia) can make them seem stiff or rigid. In some cases, an early period of hypotonia will progress to hypertonia after the first 2 to 3 months of life. Children with CP may also have unusual posture or favor one side of the body when they reach, crawl, or move. It is important to note that some children without CP also might have some of these signs.
Some early warning signs:
In a baby older than 6 months of age:
In a baby older than 10 months of age:
What causes cerebral palsy?
Cerebral palsy is caused by abnormal development of part of the brain or by damage to parts of the brain that control movement. This damage can occur before, during, or shortly after birth. The majority of children have congenital cerebral palsy CP (that is, they were born with it), although it may not be detected until months or years later. A small number of children have acquired cerebral palsy, which means the disorder begins after birth. Some causes of acquired cerebral palsy include brain damage in the first few months or years of life, brain infections such as bacterial meningitis or viral encephalitis, problems with blood flow to the brain, or head injury from a motor vehicle accident, a fall, or child abuse.
In many cases, the cause of cerebral palsy is unknown. Possible causes include genetic abnormalities, congenital brain malformations, maternal infections or fevers, or fetal injury, for example. The following types of brain damage may cause its characteristic symptoms:
. The white matter of the brain is responsible for transmitting signals inside the brain and to the rest of the body. PVL describes a type of damage that looks like tiny holes in the white matter of an infant’s brain. These gaps in brain tissue interfere with the normal transmission of signals. There are a number of events that can cause PVL, including maternal or fetal infection. Researchers have also identified a period of selective vulnerability in the developing fetal brain, a period of time between 26 and 34 weeks of gestation, in which periventricular white matter is particularly sensitive to insults and injury.
. Any interruption of the normal process of brain growth during fetal development can cause brain malformations that interfere with the transmission of brain signals. The fetal brain is particularly vulnerable during the first 20 weeks of development. Mutations in the genes that control brain development during this early period can keep the brain from developing normally. Infections, fevers, trauma, or other conditions that cause unhealthy conditions in the womb also put an unborn baby’s nervous system at risk.
. Bleeding inside the brain from blocked or broken blood vessels is commonly caused by fetal stroke. Some babies suffer a stroke while still in the womb because of blood clots in the placenta that block blood flow in the brain. Other types of fetal stroke are caused by malformed or weak blood vessels in the brain or by blood-clotting abnormalities. Maternal high blood pressure (hypertension) is a common medical disorder during pregnancy and is more common in babies with fetal stroke. Maternal infection, especially pelvic inflammatory disease, has also been shown to increase the risk of fetal stroke.
. Asphyxia, a lack of oxygen in the brain caused by an interruption in breathing or poor oxygen supply, is common for a brief period of time in babies due to the stress of labor and delivery. If the supply of oxygen is cut off or reduced for lengthy periods, an infant can develop a type of brain damage called hypoxic-ischemic encephalopathy, which destroys tissue in the cerebral motor cortex and other areas of the brain. This kind of damage can also be caused by severe maternal low blood pressure, rupture of the uterus, detachment of the placenta, or problems involving the umbilical cord, or severe trauma to the head during labor and delivery.
What are the risk factors?
There are some medical conditions or events that can happen during pregnancy and delivery that may increase a baby’s risk of being born with cerebral palsy. These risks include:
. Premature babies (born less than 37 weeks into pregnancy) and babies weighing less than 5 ½ pounds at birth have a much higher risk of developing cerebral palsy than full-term, heavier weight babies. Tiny babies born at very early gestational ages are especially at risk.
. Twins, triplets, and other multiple births -- even those born at term -- are linked to an increased risk of cerebral palsy. The death of a baby’s twin or triplet further increases the risk.
. Infections such as toxoplasmosis, rubella (German measles), cytomegalovirus, and herpes, can infect the womb and placenta. Inflammation triggered by infection may then go on to damage the developing nervous system in an unborn baby. Maternal fever during pregnancy or delivery can also set off this kind of inflammatory response.
. Rh incompatibility is a condition that develops when a mother’s Rh blood type (either positive or negative) is different from the blood type of her baby. The mother’s system doesn’t tolerate the baby’s different blood type and her body will begin to make antibodies that will attack and kill her baby’s blood cells, which can cause brain damage.
. Mothers who have been exposed to toxic substances during pregnancy, such as methyl mercury, are at a heightened risk of having a baby with cerebral palsy..
. Mothers with any of these conditions are slightly more likely to have a child with CP.
There are also medical conditions during labor and delivery, and immediately after delivery that act as warning signs for an increased risk of CP. However, most of these children will not develop CP. Warning signs include:
Can cerebral palsy be prevented?
Cerebral palsy related to genetic abnormalities cannot be prevented, but a few of the risk factors for congenital cerebral palsy can be managed or avoided. For example, rubella, or German measles, is preventable if women are vaccinated against the disease before becoming pregnant. Rh incompatibilities can also be managed early in pregnancy. Acquired cerebral palsy, often due to head injury, is often preventable using common safety tactics, such as using car seats for infants and toddlers.
What are the different forms?
The specific forms of cerebral palsy are determined by the extent, type, and location of a child’s abnormalities. Doctors classify CP according to the type of movement disorder involved -- spastic (stiff muscles), athetoid (writhing movements), or ataxic (poor balance and coordination) -- plus any additional symptoms, such weakness (paresis) or paralysis (plegia). For example, hemiparesis (hemi = half) indicates that only one side of the body is weakened.Quadriplegia (quad = four) means all four limbs are afffected.
is the most common type of the disorder. People have stiff muscles and awkward movements. Forms of spastic cerebral palsy include:
typically affects the arm and hand on one side of the body, but it can also include the leg. Children with spastic hemiplegia generally walk later and on tip-toe because of tight heel tendons. The arm and leg of the affected side are frequently shorter and thinner. Some children will develop an abnormal curvature of the spine (scoliosis). A child with spastic hemiplegia may also have seizures. Speech will be delayed and, at best, may be competent, but intelligence is usually normal.
involves muscle stiffness that is predominantly in the legs and less severely affects the arms and face, although the hands may be clumsy. Tendon reflexes in the legs are hyperactive. Toes point up when the bottom of the foot is stimulated. Tightness in certain leg muscles makes the legs move like the arms of a scissor. Children may require a walker or leg braces. Intelligence and language skills are usually normal.
is the most severe form of cerebral palsy and is often associated with moderate-to-severe intellectual disability. It is caused by widespread damage to the brain or significant brain malformations. Children will often have severe stiffness in their limbs but a floppy neck. They are rarely able to walk. Speaking and being understood are difficult. Seizures can be frequent and hard to control.
is characterized by slow and uncontrollable writhing or jerky movements of the hands, feet, arms, or legs. Hyperactivity in the muscles of the face and tongue makes some children grimace or drool. They find it difficult to sit straight or walk. Some children have problems hearing, controlling their breathing, and/or coordinating the muscle movements required for speaking. Intelligence is rarely affected in these forms of cerebral palsy.
affects balance and depth perception. Children with ataxic CP will often have poor coordination and walk unsteadily with a wide-based gait. They have difficulty with quick or precise movements, such as writing or buttoning a shirt, or a hard time controlling voluntary movement such as reaching for a book.
of cerebral palsy refer to symptoms that don’t correspond to any single type of CP but are a mix of types. For example, a child with mixed CP may have some muscles that are too tight and others that are too relaxed, creating a mix of stiffness and floppiness.
What other conditions are associated with cerebral palsy?
Intellectual disability. Approximately 30 – 50 percent of individuals with CP will be intellectually impaired. Mental impairment is more common among those with spastic quadriplegia than in those with other types of cerebral palsy.
. As many as half of all children with CP have one or more seizures. Children with both cerebral palsy and epilepsy are more likely to have intellectual disability.
. Children with moderate to severe CP, especially those with spastic quadriparesis, often lag behind in growth and development. In babies this lag usually takes the form of too little weight gain. In young children it can appear as abnormal shortness, and in teenagers it may appear as a combination of shortness and lack of sexual development. The muscles and limbs affected by CP tend to be smaller than normal, especially in children with spastic hemiplegia, whose limbs on the affected side of the body may not grow as quickly or as long as those on the normal side.
. Deformities of the spine—curvature (scoliosis), humpback (kyphosis), and saddle back (lordosis) -- are associated with CP. Spinal deformities can make sitting, standing, and walking difficult and cause chronic back pain. Pressure on and misalignment of the joints may result in osteoporosis (a breakdown of cartilage in the joints and bone enlargement).
. Many children with CP have strabismus, commonly called “cross eyes,” which left untreated can lead to poor vision in one eye and can interfere with the ability to judge distance. Some children with CP have difficulty understanding and organizing visual information. Other children may have defective vision or blindness that blurs the normal field of vision in one or both eyes.
. Impaired hearing is also more frequent among those with CP than in the general population. Some children have partial or complete hearing loss, particularly as the result of jaundice or lack of oxygen to the developing brain.
. Speech and language disorders, such as difficulty forming words and speaking clearly, are present in more than a third of persons with CP. Poor speech impairs communication and is often interpreted as a sign of cognitive impairment, which can be very frustrating to children with CP, especially the majority who have average to above average intelligence,
. Some individuals with CP drool because they have poor control of the muscles of the throat, mouth, and tongue.
. A possible complication of CP is incontinence, caused by poor control of the muscles that keep the bladder closed.
. Some individuals with CP experience pain or have difficulty feeling simple sensations, such as touch.
. Children with CP may have difficulty processing particular types of spatial and auditory information. Brain damage may affect the development of language and intellectual functioning.
. Many adults with CP have a higher risk of heart and lung disease, and pneumonia (often from inhaling bits of food into the lungs), than those without the disorder.
. Muscles can become painfully fixed into abnormal positions, called contractures, which can increase muscle spasticity and joint deformities in people with CP.
. Swallowing, sucking, or feeding difficulties can make it difficult for many individuals with CP, particularly infants, to get proper nutrition and gain or maintain weight.
. Many children with CP are at risk of developing gum disease and cavities because of poor dental hygiene. Certain medications, such as seizure drugs, can exacerbate these problems.
. Childhood inactivity is magnified in children with CP due to impairment of the motor centers of the brain that produce and control voluntary movement. While children with CP may exhibit increased energy expenditure during activities of daily living, movement impairments make it difficult for them to participate in sports and other activities at a level of intensity sufficient to develop and maintain strength and fitness. Inactive adults with disability exhibit increased severity of disease and reduced overall health and well-being.
How is cerebral palsy diagnosed?
Most children with cerebral palsy are diagnosed during the first 2 years of life. But if a child’s symptoms are mild, it can be difficult for a doctor to make a reliable diagnosis before the age of 4 or 5.
Doctors will order a series of tests to evaluate the child’s motor skills. During regular visits, the doctor will monitor the child’s development, growth, muscle tone, age-appropriate motor control, hearing and vision, posture, and coordination, in order to rule out other disorders that could cause similar symptoms. Although symptoms may change over time, CP is not progressive. If a child is continuously losing motor skills, the problem more likely is a condition other than CP—such as a genetic or muscle disease, metabolism disorder, or tumors in the nervous system.
Lab tests can identify other conditions that may cause symptoms similar to those associated with CP.
Neuroimaging techniques that allow doctors to look into the brain (such as an MRI scan) can detect abnormalities that indicate a potentially treatable movement disorder. Neuroimaging methods include:
Another test, an electroencephalogram, uses a series of electrodes that are either taped or temporarily pasted to the scalp to detect electrical activity in the brain. Changes in the normal electrical pattern may help to identify epilepsy.
Some metabolic disorders can masquerade as CP. Most of the childhood metabolic disorders have characteristic brain abnormalities or malformations that will show up on an MRI.
Other types of disorders can also be mistaken for CP or can cause specific types of CP. For example, coagulation disorders (which prevent blood from clotting or lead to excessive clotting) can cause prenatal or perinatal strokes that damage the brain and produce symptoms characteristic of CP, most commonly hemiparetic CP. Referrals to specialists such as a child neurologist, developmental pediatrician, ophthalmologist, or otologist aid in a more accurate diagnosis and help doctors develop a specific treatment plan.
How is cerebral palsy treated?
Cerebral palsy can’t be cured, but treatment will often improve a child's capabilities. Many children go on to enjoy near-normal adult lives if their disabilities are properly managed. In general, the earlier treatment begins, the better chance children have of overcoming developmental disabilities or learning new ways to accomplish the tasks that challenge them.
There is no standard therapy that works for every individual with cerebral palsy. Once the diagnosis is made, and the type of CP is determined, a team of health care professionals will work with a child and his or her parents to identify specific impairments and needs, and then develop an appropriate plan to tackle the core disabilities that affect the child’s quality of life.
, usually begun in the first few years of life or soon after the diagnosis is made, is a cornerstone of CP treatment. Specific sets of exercises (such as resistive, or strength training programs) and activities can maintain or improve muscle strength, balance, and motor skills, and prevent contractures. Special braces (called orthotic devices) may be used to improve mobility and stretch spastic muscles.
focuses on optimizing upper body function, improving posture, and making the most of a child’s mobility. Occupational therapists help individuals address new ways to meet everyday activities such as dressing, going to school, and participating in day-to-day activities.
encourages participation in art and cultural programs, sports, and other events that help an individual expand physical and cognitive skills and abilities. Parents of children who participate in recreational therapies usually notice an improvement in their child’s speech, self-esteem, and emotional well-being.
can improve a child’s ability to speak, more clearly, help with swallowing disorders, and learn new ways to communicate—using sign language and/or special communication devices such as a computer with a voice synthesizer, or a special board covered with symbols of everyday objects and activities to which a child can point to indicate his or her wishes.
are often necessary when children with CP have difficulty eating and drinking because they have little control over the muscles that move their mouth, jaw, and tongue. They are also at risk for breathing food or fluid into the lungs, as well as for malnutrition, recurrent lung infections, and progressive lung disease.
Assistive devices such devices as computers, computer software, voice synthesizers, and picture books can greatly help some individuals with CP improve communications skills. Other devices around the home or workplace make it easier for people with CP to adapt to activities of daily living.
Orthotic devices help to compensate for muscle imbalance and increase independent mobility. Braces and splints use external force to correct muscle abnormalities and improve function such as sitting or walking. Other orthotics help stretch muscles or the positioning of a joint. Braces, wedges, special chairs, and other devices can help people sit more comfortably and make it easier to perform daily functions. Wheelchairs, rolling walkers, and powered scooters can help individuals who are not independently mobile. Vision aids include glasses, magnifiers, and large-print books and computer typeface. Some individuals with CP may need surgery to correct vision problems. Hearing aids and telephone amplifiers may help people hear more clearly.
Many children and adolescents with CP use some form of complementary or alternative medicine. Controlled clinical trials involving some of the therapies have been inconclusive or showed no benefit and the therapies have not been accepted in mainstream clinical practice. Although there are anecdotal reports of some benefit in some children with CP, these therapies have not been approved by the U.S. Food and Drug Administration for the treatment of CP. Such therapies include hyperbaric oxygen therapy, special clothing worn during resistance exercise training, certain forms of electrical stimulation, assisting children in completing certain motions several times a day, and specialized learning strategies. Also, dietary supplements, including herbal products, may interact with other products or medications a child with CP may be taking or have unwanted side effects on their own. Families of children with CP should discuss all therapies with their doctor.
is being investigated as a treatment for cerebral palsy, but research is in early stages and large-scale clinical trials are needed to learn if stem cell therapy is safe and effective in humans. Stem cells are capable of becoming other cell types in the body. Scientists are hopeful that stem cells may be able to repair damaged nerves and brain tissues. Studies in the U.S. are examining the safety and tolerability of umbilical cord blood stem cell infusion in children with CP.
P.O. Box 5801
Bethesda, MD 20824
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: 914-997-4488, 888-MODIMES (663-4637)
233 South Wacker Drive, Suite 2400
Chicago, IL 60606
Tel: 312-726-6200, 800-221-6827
United Cerebral Palsy (UCP)
1600 L Street, NW, Suite 700
Washington, DC 20036
Tel: 202-776-0406, 800-USA-5UCP (872-5827)
150 N. Michigan Avenue, Suite 2100
Chicago, IL 60601
Tel: 312-893-6621, 800-955-CHILD (2445)
Children's Neurobiological Solutions (CNS) Foundation
1223 Wilshire Blvd, #937
Santa Monica, CA 90403
Tel: 866-CNS-5580 (267-5580), 310-889-8611
Pedal with Pete [For Research on Cerebral Palsy]
P.O. Box 1233
Worthington, OH 43085
Cerebral Palsy International Research Foundation
186 Princeton Hightstown Rd
Building 4, 2nd Floor
Princeton Junction, NJ 08550
This information was developed by the National Institute of Neurological Disorders and Stroke, National Institutes of Health.
Office of Communications and Public Liaison, National Institute of Neurological Disorders and Stroke, National Institutes of Health. Cerebral Palsy. Available at: https://www.ninds.nih.gov/health-information/disorders/cerebral-palsy. Accessed April 24, 2023.
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3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660