Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is extremely difficult to diagnose. There is usually a significant delay in the time it takes to get a diagnosis. There are several reasons for this. Most doctors will never see a person with this disorder and most aren’t familiar with the disorder. The disorder is also high variable. This means that there are many different symptoms associated with the disorder. The specific symptoms, the age they begin, their severity all may differ dramatically from one person to another. Symptoms affect different organs so patients end up seeing different medical specialists. Parents may not think to tell an eye doctor who finds cataracts in their child’s eyes that the child also has persistent diarrhea. Finally, there is no newborn screening test for cerebrotendinous xanthomatosis. Doctors are working on developing such a test.

In a family with cerebrotendinous xanthomatosis, other testing can be done to see whether at-risk family members are carriers for the disorder. However, the specific gene changes in that family must be known. If known, all siblings of an affected child can be tested to see whether they have the disorder or whether they are carriers. A newborn child in such a family must be tested either through a test that looks for a gene change (if known for that family) or tests that can measure certain chemical levels in the body. A genetic counselor or physician with experience in cerebrotendinous xanthomatosis can provide advice about how a diagnosis can impact other family members.

Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Support groups can put you in contact with other people or families that have cerebrotendinous xanthomatosis. Support groups and organizations for this disorder include United Leukodystrophy Foundation and the Council for Bile Acid Deficiency Diseases.

There are also online communities for rare disorders such as RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

The medical costs of cerebrotendinous xanthomatosis can be significant. Some families lack the resources necessary to provide for a chronically ill child. Adults with severe symptoms of the disorder may not be able to work or care for themselves. There are several organizations that provide financial assistance specifically for individuals or families with medical issues. These groups include:

The Social Security Administration has a Compassionate Allowances Initiative. This program speeds up the processing of disability claims for people with specific medical conditions that cause severe disability. Cerebrotendinous xanthomatosis is included on this list. Information for applying for Social Security Disability can be found on their website.

A patient assistance program, the Chenodal Total Care Program, may help patients who require financial assistance obtain this drug. The number for the program is 1.866.758.7068. Patient assistance programs provide free or low cost prescription drugs to qualifying individuals.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

Doctors don’t know if there is a best time to start chenodeoxycholic acid replacement therapy in children or individuals with cerebrotendinous xanthomatosis. According to the medical literature, the earlier treatment can be started the better. Some symptoms, specifically neurological disease, may not respond to therapy if treatment is started too late.

People with cerebrotendinous xanthomatosis will undergo neurological examination including specialized x-ray techniques, electroencephalography, and nerve conduction studies. These tests may be done after a diagnosis is made to assess how far along the disease is, or before a diagnosis is known when doctors are trying to figure out what is wrong with a person. These tests may reveal changes that are not specific to cerebrotendinous xanthomatosis, but can be seen in many different neurological disorders.

Computed tomography, or a CAT scan, and magnetic resonance imaging, or an MRI, are specialized imaging techniques that allow doctors to view structures in the body. Doctors use these tests because they can reveal areas in the brain that are damaged in cerebrotendinous xanthomatosis. For example, some areas of the brain may appear lighter in color than the surrounding tissue. This is called hyperintensity and indicates damage to that area of the brain. In some people damage can be seen in the white matter or in a cluster of nerve cells called dentate nuclei.

Individuals often have an abnormal electroencephalography or EEG. This is a painless test that records the electrical activity in the brain. Electrodes are placed on the scalp and record the electrical waves during periods of activity. In some people with cerebrotendinous xanthomatosis the electrical waves may be slow with occasional bursts of activity.

A nerve conduction study measures how fast nerve impulses pass through a nerve. If this test shows the nerve impulses traveling slowly, then damage to the nerves is present.

People with cerebrotendinous xanthomatosis require periodic checkups or exams to monitor their health. They will be checked to see how well treatment working, whether the disease has progressed or gotten better, or will be checked for the possible development of new symptoms.

Rare diseases that affect multiple organ systems can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a specialist for neurological disorders in children (pediatric neurologist) who will monitor brain function and health; an eye doctor (ophthalmologist) who can periodically check for cataracts; a psychiatrist to monitor and treat emotional or behavior problems; a genetic counselor who can help people understand the disease and the implications for the person and other family members, a metabolic disease specialist, a specialist in digestive disorders (gastroenterologist), physiotherapists, occupational therapists, and nutritionists.

The standard medical abbreviation for cerebrotendinous xanthomatosis is CTX.

Cerebrotendinous xanthomatosis (CTX) is a genetic condition in which cholesterol and a similar fatty substance called cholestanol build up in the brain, nerves, spinal cord, tendons, lenses of the eyes, and arteries. In the brain, cholestanol can build up and damage the white matter (myelin) leading to worsening intellectual ability (progressive neurological deterioration). In CTX, the cholesterol and cholestanol build up as people with this disorder do not have enough of an enzyme called sterol 27-hydroxylase to break down cholesterol and cholestanol. The symptoms may be very different among different people. This is because the organ systems that become affected in one person might be different from those affected in another. The age when symptoms first appear, whether neurological problems occur, how quickly the disease gets worse, and the overall severity can all be very different among individuals with this disorder. People with this disorder can be treated with chenodeoxycholic acid. Early diagnosis and prompt treatment is critical. Sometimes, the damage from the disease can be stopped or even reversed. CTX occurs because of changes in a gene called CYP72A1. This gene change is inherited from the parents.

There are support groups and organizations for CTX that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. These groups for cerebrotendinous xanthomatosis include the United Leukodystrophy Foundation and
Council for Bile Acid Deficiency Diseases.

There is also a very good article about CTX written for doctors at GeneReviews Cerebrotendinous xanthomatosis website.

You should discuss the medication, its effectiveness and side effects of any medication you are taking with your doctor. In 2019, a small study looked at the use of cholic acid as a treatment in individuals with cerebrotendinous xanthomatosis (CTX). Cholic acid was an effective treatment, especially for some individuals for which standard replacement therapy was not effective. However, the study was very small and much more research is needed to determine if cholic acid is effective for a larger portion of affected individuals.

Cerebrotendinous xanthomatosis can be very different in one person compared to another person. The disorder can potentially affect many different organ systems. If someone is diagnosed in infancy, physicians should look for cataracts as that child ages. However, although cataracts often develop by 10 years of age, they’ve first appeared around 60 years of age in other people. If untreated, subtle neurological decline can begin in childhood, which can cause slowly progressive intellectual disability. Adults should be monitored for osteoporosis, which can result in repeated bone fractures, and cardiovascular issues such as premature atherosclerosis, which can lead to heart problems.

Cerebrotendinous xanthomatosis is usually caused by changes or mutations in the CYP27A1 gene. More than 50 different genetic changes in this gene have been shown to cause the disorder. Genes are segments of DNA found on chromosomes. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent, deficient, or faulty and ineffective.

Cerebrotendinous xanthomatosis can cause lots of different symptoms. It can cause different symptoms in different people. The severity of those symptoms can be different as well. Every person with this disorder is unique and how the disorder develops and progresses in each person will be unique as well. Certain symptoms are more likely to occur during specific age ranges. Some symptoms will develop gradually during life. Some symptoms are common; others occur far less often. Common symptoms include diarrhea, cataracts, non-cancerous (benign) fatty tumors called xanthomas in the tendons, and progressive neurological problems.

Diarrhea occurs in infancy or early childhood and can be resistant to treatment. This may be called intractable diarrhea. Infants may have repeated episodes of diarrhea, as many as 10-12 episodes a day. Cataracts are common and usually form within the first 10 years of life. Cataracts may be the first symptom seen in some people. Some children will have cholestasis, a condition in which the flow of bile from the liver is stopped or slowed down. Cholestasis can be mild and resolve on its own. Some people with mild cholestasis will go on to develop more symptoms of cerebrotendinous xanthomatosis later on in life. Cholestasis can also be more serious and can cause yellowing of the skin, mucous membranes, and eyes (jaundice) and affect how a child grows and gains weight.

Xanthomas are a common symptoms. They form in the tendons, the flexible connective tissue that connects muscles to bone. They are most likely to form in the Achilles tendon and tendons in the hands, elbows, knees, and neck. Xanthomas usually develop in teenagers or young adults. Sometimes, they grow slowly larger over time.

If the disorder is unrecognized and untreated, a subtle decline in mental function may occur. This usually happens around puberty, but can begin earlier in some children. This can lead to intellectual disability and learning disabilities. Some people do not develop neurological symptoms until adulthood. In adults, the range of these problems is very broad. Some people do not develop any neurological issues. Others can develop seizures, problems with coordination, increased muscle tone and stiffness, involuntary muscle contractions that force the body into painful or awkward positions (dystonia), and symptoms that resemble Parkinson disease. Changes in person’s behavior can also be seen. People can show agitation, aggression, depression, attention deficit hyperactivity disorder, and hallucinations. Some people develop dementia, sometimes as early as in their 20s. The neurological and psychiatric problems in cerebrotendinous xanthomatosis can vary greatly from one person to another.

Some people have cardiovascular disease including atherosclerosis, or hardening of the arteries. Osteoporosis and repeated bone fractures are also common.

After a diagnosis of cerebrotendinous xanthomatosis is confirmed, families should seek a medical consultation with a a physician such as a metabolic genetic specialist with experience in treating the disorder. Treatment with oral bile acid replacement therapy should begin as soon as possible. Restoring the missing chenodeoxycholic acid will correct the problems in the production of cholestanol and prevent or reverse certain symptoms. People diagnosed with cerebrotendinous xanthomatosis will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Cerebrotendinous xanthomatosis is not one of the disorders that is routinely screened for in newborns. Newborn screening is a way for doctors to test newborn babies for certain inherited disorders. During newborn screening, a tiny sample of blood, called a dried blood spot, is taken from a newborn. This blood sample is run through a machine like a tandem mass spectrometer. This machine can separate and measure certain substances based upon their molecular weight.

Researchers have developed a test that can detect cerebrotendinous xanthomatosis by studying a dried blood spot. The test would detect high levels of a specific chemical, called 7α,12α-dihydroxy-4-cholesten-3-one or 7α12αC4. This chemical is a bile acid precursor. A precursor is a substance from which another substance is formed, usually through a chemical (metabolic) reaction. This test is still in the developmental stage. A potential newborn screening test is important because cerebrotendinous xanthomatosis can be treated and certain symptoms may be prevented if people are diagnosed and treatment is begun early enough.

More information about newborn screening is available from the National Newborn Screening & Global Resources Center in Austin, Texas or the U.S. Centers for Disease Control and Prevention in Atlanta, Georgia.

Cerebrotendinous xanthomatosis can be diagnosed by blood or urine tests. Doctors will test blood samples for cholestenol concentration. Blood samples or plasma (the fluid part of blood) may have high levels of cholesterol as well. The plasma will also contain high levels of bile acid precursors. A precursor is a substance from which another substance is formed, usually through a chemical (metabolic) reaction. The concentration of bile alcohols will be high in urine and plasma samples as well as in the bile. These blood and urine tests are best done at a laboratory that is experienced in performing such tests.

Molecular genetic testing can be used to confirm a diagnosis of cerebrotendinous xanthomatosis. These tests involve studying the CYP27A1 gene for changes that cause the disorder. This can include targeted mutation analysis, where specific, known changes in a gene are looked for; sequence analysis, where a part or sequence of DNA within a gene is examined; or deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories.

A genetics professional nearby can discuss information and testing for CTX. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

There are several organizations that can help individuals and families with cerebrotendinous xanthomatosis who are dealing with neurological problems. If untreated, a diverse and wide variety of neurological complications may develop in people. Many different organizations provide support and information for these issues. The Arc provides support and services to people with intellectual and developmental disabilities. The National Mental Health Institute and the National Alliance on Mental Illness also provide a wide range of services, information, support, guidance and referrals for people of all ages.

The Sterol and Isoprenoid Research (STAIR) Consortium represents a collaborative group of investigators along with their academic medical centers and the National Institutes of Health, patient advocacy groups (PAGs), and clinical research programs. This organization is focused on studying a group of diseases that includes cerebrotendinous xanthomatosis bound by common biochemistry, impact on health, and rarity. STAIR is part of the Rare Diseases Clinical Research Network (RDCRN) an initiative of the Office of Rare Diseases Research, NCATS, and is made up of 22 research consortia. They work together to improve availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community.

Other places to check for research studies are listed below.

People with cerebrotendinous xanthomatosis are missing the bile acid chenodeoxycholic acid (CDCA). Doctors treat the disorder by replacing the missing bile acid using an artificially-made version. This is called replacement therapy. Replacing CDCA can halt the progression of the disorder and even reverse certain symptoms. It can prevent symptoms in people who have not developed any symptoms yet. Many children treated with replacement therapy have had long-term success. It is extremely important that replacement therapy begin as soon as possible. Once neurological damage reaches a certain point, this treatment will no longer be able to undo the damage and reverse neurological deficits.

Chenodal® is a synthetic form of chenodeoxycholic acid that is used as a first-line therapy to treat individuals with CTX. Chenodal received an orphan drug designation from the Food and Drug Administration for the treatment of CTX in the U.S. in 2010. Chenodal is manufactured by a pharmaceutical company called Retrophin, Inc. A patient assistance program, the Chenodal Total Care Program, may help patients who require financial assistance obtain this drug. The number for the program is 1.866.758.7068.

Sometimes treatment with chenodeoxycholic acid is combined with another medication called a statin. Statins are drugs that reduce fat levels in the blood. Statins can block the function of an enzyme that is necessary for the creation of cholesterol in the liver. However, some doctors caution that these drugs actually can increase the levels of cholesterol and worsen the disorder. These drugs can also cause muscle damage.

A genetics professional nearby can discuss treatment options. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Cerebrotendinous xanthomatosis is classified as both a leukodystrophy and a lipid storage disease. Leukodystrophy is a general term for a disorder that affects the growth and health of myelin. Myelin is a covering or "sheath" that coats, protects, and insulates nerve fibers. Collectively, myelin-covered nerve fibers are known as white matter. In some people with cerebrotendinous xanthomatosis, a fatty substance called cholestanol builds up in the white matter. Lipid storage diseases are those in which harmful amounts of fatty substances such as cholesterol and cholestanol build up in the tissues and cells of the body.

Carriers of the CYP27A1 gene that causes cerebrotendinous xanthomatosis do not develop symptoms of the disorder. They are at risk of passing the disorder on to their children. In extremely rare instances, a couple people with a gene change in one CYP27A1 gene have developed symptoms. Researchers suspect this is because of another change or alteration in a different gene that, when combined the alteration in the CYP27A1 gene causes symptoms similar to those in cerebrotendinous xanthomatosis.

Chenodeoxycholic acid (or CDCA) replacement therapy is the main treatment option for people with cerebrotendinous xanthomatosis. It is not a cure, however. People who take the medication will have to remain on it for the rest of their lives.

In cerebrotendinous xanthomatosis, both parents must pass along a nonworking copy of the CYP27A1 gene. For each individual pregnancy, there is a 25% chance that both parents will pass along a nonworking copy of the gene and the child will have the disorder. There is a 50% chance that one parent will pass on the gene change and the other won’t, meaning the child will be a carrier for the disorder. There is a 25% chance that both parents will pass along a working copy of the gene and the child will not have the disorder and will not be a carrier.

Genetics Home Reference (GHR) provides consumer-friendly information about the effects of genetic variation on human health including a primer called Help Me Understand Genetcs. GHR is a service of the National Library of Medicine (NLM), which itself is part of the National Institutes of Health.

A genetic counselor near you who can discuss the inheritance of CTX and who else in the family might be at risk to be a carrier or have a child with CTX. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Cerebrotendinous xanthomatosisis inherited in an autosomal recessive manner. This is one way a disorder or trait can be passed down through a family. Everyone has two copies of the CYP27A1 gene; one received from their father and one from their mother. Autosomal recessive inheritance means that a person receives a nonworking copy of the CYP27A1 gene from both parents. The parents have one working copy of the gene and one nonworking copy; they are carriers for cerebrotendinous xanthomatosis. Carriers do not develop symptoms of the disorder.

Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

In cerebrotendinous xanthomatosis, the CYP27A1 gene produces an enzyme called sterol 27-hydroxylase. Because of a change or mutation in this gene, people with cerebrotendinous xanthomatosis do not produce enough of this enzyme. Sterol 27-hydroxylase has a job; it works in a chemical pathway. A chemical pathway is a series of chemical reactions in which certain substances are broken down and converted into other substances. Sterol 27-hydroxylase is part of the pathway that produces chenodeoxycholic acid, which is a bile salt or bile acid. Bile salts are chemical compounds found in the liver that help the intestines to absorb fats and certain vitamins. Because people do not have enough sterol 27-hydroxylase, they cannot produce chenodeoxycholic acid. They also cannot break down cholesterol and other bile acid precursors. A precursor is a substance from which another substance is formed, usually through a chemical (metabolic) reaction. This causes too much cholesterol and a similar fatty substance called cholestenol to build up in the body.

Cholesterol and cholestanol will build up in lots of tissues of the body including the brain, nerves, spinal cord, tendons, lenses of the eyes, and arteries. Eventually, this can damage the affected tissues and organs. In the brain, cholestanol may build up in the white matter, or myelin. Myelin is a covering of nerve fibers that protects and insulates the nerves. When it breaks down, the nerves cannot function well. The brain uses nerves to tells the body what to do. When the myelin is damaged, the brain can’t communicate properly to other areas of the body. This results in progressive neurological deterioration.

Although the buildup of cholesterol and choelstanol cause symptoms in cerebrotendinous xanthomatosis, researchers believe that other factors contribute to the development of symptoms in many people. These other factors are not yet completely understood or known.

A doctor may suspect a diagnosis of cerebrotendinous xanthomatosis because of the symptoms a person has. An infant with chronic diarrhea that doesn’t respond to treatment or cataracts in young children, or cholestatic liver disease in infants without an apparent cause. Unexplained neurological disease in adolescents or adults can also be a sign. Even if a diagnosis isn’t suspected, these symptoms might lead to a patient being referred to a specialist. A referral to local genetics clinic or a genetic metabolic specialist may also be made. Unfortunately, the symptoms of this disorder are so varied that a delay in diagnosis of many years is common. The mean age of diagnosis is around 35-37 years of age.

A suspected diagnosis should lead to biochemical testing. This type of testing measures the levels of certain chemicals in blood and urine samples. This includes measuring cholestanol concentration in the blood plasma or bile alcohol levels in the urine or blood plasma. These chemicals are found in high concentrations in people with cerebrotendinous xanthomatosis. A diagnosis can be confirmed by molecular genetic testing. This type of testing looks for the gene changes that cause the disorder. Both biochemical and molecular genetic testing must be done at specialized laboratories that have experience with cerebrotendinous xanthomatosis and related disorders.

Physicians have created a suspicion index, which assigns weighted scores indicators of cerebrotendinous xanthomatosis such as family history characteristics and common systemic and neurological features of the disorder. The indicators are classified as very strong (score 100), strong (50) or moderate (25).

A genetics professional nearby can discuss information and testing for CTX. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

To learn about ongoing clinical research into cerebrotendinous xanthomatosis ask a physician who specializes in the disorder. Genetic counselors and medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial.

Ongoing studies for cerebrotendinous xanthomatosis can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. The United Leukodystrophy Foundation is a support group that can provide information on clinical trials and current research on disorders classified as leukodystrophies including cerebrotendinous xanthomatosis.

One of the best ways to find a treatment center or physician with experience in treating cerebrotendinous xanthomatosis is to contact a support group. The United Leukodystrophy Foundation is a support group that provides such information about disorders classified as leukodystrophy including cerebrotendinous xanthomatosis. The Council for Bile Acid Deficiency Diseases is a nonprofit association of individuals, healthcare professionals and commercial entities. It works to increase public awareness of bile acid deficiency diseases by providing educational materials and forums, and to help facilitate access to diagnostic testing and new treatments.

How children with cerebrotendinous xanthomatosis perform in school depends on many factors including when treatment began, how a child responds to treatment, whether neurological problems occur early, and how severe a form of the disorder they may have. If undiagnosed and untreated, children with cerebrotendinous xanthomatosis may show a gradual mental decline starting around puberty. Sometimes, these subtle changes may begin in childhood. Children may experience learning disabilities. Some children will be eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on cerebrotendinous xanthomatosis and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans. The Program for the Study of Neurodevelopment in Rare Disorders gives advice about IEPs.

More than 400 people with cerebrotendinous xanthomatosis have been reported in the medical literature. Generally, the disorder is considered extremely rare. However, a study in 2015 suggested that cerebrotendinous xanthomatosis is most likely under-recognized and underdiagnosed. According to the study, researchers estimated incidence rates as ranging from: 1:134,970 to 1:461,358 in Europeans, 1:263,222 to 1:468,624 in Africans, 1:71,677 to 1:148,914 in Americans, 1:64,267 to 1:64,712 in East Asians and 1:36,072 to 1:75,601 in South Asians.

Cerebrotendinous xanthomatosis is caused by changes to the CYP27A1 gene. Nothing else and no other gene is known to cause the disorder. More than 50 different genetic changes in the CYP27A1 gene have been identified. In genetic disorders, different changes in a gene are sometimes more likely to cause certain symptoms. This is called genotype-phenotype correlation. Researchers have not been able to find any such correlation in the gene changes that cause cerebrotendinous xanthomatosis.

Although there is no other known cause for this disorder, researchers believe that other factors influence how the disorder develops or progresses in a person. Researchers speculate that environmental factors and changes in other genes (called modifier genes) impact each person with this disorder. These additional factors would explain why some people develop certain symptoms and other people do not. Researchers are still trying to figure out what factors in addition to the gene change can influence how the cerebrotendinous xanthomatosis develops and progresses in a person.

Generally, surgery for xanthomas associated with cerebrotendinous xanthomatosis is not recommend. Surgery is only recommended in specific situations as when a xanthoma is compressing against the spine.

According to the medical literature, women with cerebrotendinous xanthomatosis can continue to take chenodeoxycholic acid replacement therapy during pregnancy.

Some parents may choose to have their child tested for cerebrotendinous xanthomatosis before the child is born. This is known as prenatal diagnosis. This is only possible in families with a child who already has a diagnosis of cerebrotendinous xanthomatosis and in whom the disease-causing gene change is known. A sample of tissue for testing can be taken from the placenta. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied. Prenatal diagnosis must be done at a research or clinical laboratory.

Genetic counselors can help you learn more about prenatal testing. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Cerebrotendinous xanthomatosis may also be known as:

Some treatments for cerebrotendinous xanthomatosis are for specific symptoms of the disorder. Surgery may be necessary to remove cataracts. Medications may be used to treat specific symptoms: anti-seizure (anti-epileptics) for seizures, anti-depressants for depression, botulinum toxin for dystonia, and levodopa for Parkinson’s disease. Treatment with coenzyme Q10, a compound that naturally is found in the body, may improve muscle weakness. Calcium and vitamin D supplements may be used to treat osteoporosis.

A genetics professional nearby can discuss treatment options. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

There are groups or organizations for cerebrotendinous xanthomatosis that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. These groups for cerebrotendinous xanthomatosis include,

United Leukodystrophy Foundation
Council for Bile Acid Deficiency Diseases

Some doctors have reported on a spinal variant of cerebrotendinous xanthomatosis. In this form, cholestanol builds up in the white matter of the spinal cord. The main symptom is spastic paraplegia, a condition in which there is progressive weakness, increased muscle tone and stiffness of certain muscles. Generally, this form is milder than the classic form. Intellect is almost always normal and the brain is not affected or only shows very small amounts of cholestanol. Onset has usually been in young adulthood. One person was diagnosed at the age of 77 with no involvement of the brain.

People who take chenodeoxycholic acid (or CDCA) replacement therapy for cerebrotendinous xanthomatosis must take this therapy for the rest of their lives. People must follow a treatment plan for the drug that was developed by physicians. Sometimes people stop following that plan. Sometimes people stop taking a drug because it’s working well and they feel better. They may start to think that they do not need the drug anymore or as often as their doctors recommend. However, cholesterol and other fatty substances will keep building up in the cells of the body throughout life, even if you start to feel better. Stopping one of these drugs will lead to even more buildup of these substances. This drug must be taken every day. Even if someone feels better and their symptoms improve, they need to continue to follow their treatment plan as developed by their physician and medical team.