Friedreich ataxia

Most people with Friedreich ataxia live active, rewarding lives. Many people who have Friedreich ataxia have graduated from college and other professional degrees, gotten married, and had children of their own. People who have Friedreich ataxia live fairly typical lives, aside from extra doctors visits and regular medical care.

We have billions of cells throughout our body. Inside of our cells are our genes. Our genes are made up of our genetic code that tells the body how our body should form. When a gene or a pair of genes is not working correctly that is when we see genetic disease.

We each have two copies of the FXN gene. One copy comes from our mother, the other from our father. Inside each FXN gene is a repeated sequence of letters – "GAA." These "GAA"’s are written over and over again inside the FXN gene. Most people have between 5 and 33 repeats in their FXN genes. When someone has more than 66 GAA repeats in both copies of their FXN gene, that is when we see signs of Friedreich ataxia. As many as 1700 GAA repeats have been seen.

In this case, both copies of the gene are not working due to too many repeats. We call this autosomal recessive inheritance. Friedreich ataxia is a type of "triplet repeat disorder." The term is used because the GAA in the FXN gene is a triplet repeated over and over.

Our genes code for proteins. Proteins are what tells our body to create our brain cells, heart cells, skin cells, etc. Normal protein production is very important. When someone has more than 66 repeats in both of their FXN genes, the protein the FXN gene "codes" for is not made correctly. This causes there to be a low level of frataxin protein in the cells. The symptoms of Friedreich ataxia occur because there are certain muscles and nerves in the body that cannot function correctly without the frataxin protein. Occasionally, Friedreich ataxia can be caused by a point mutation, or change in the spelling of the FXN gene, instead of too many repeats.

Since Friedreich ataxia is inherited in an autosomal recessive pattern, both parents of a child with Friedreich ataxia are carriers. This means that they have one working copy of the FXN gene and one nonworking copy. Genetic testing can determine the exact genetic changes (mutations) that they carry.

Siblings of all children with Friedreich ataxia should be tested, if there is a suspicion that they could be affected. Siblings under 18 years of age who are not having any signs of FA, may want to wait till they are adults to be tested, as this is a personal decision that they may want to make as adults and not have their parents make this decision for them. Testing siblings is something that should be discussed in detail with your child’s geneticist, genetic counselor, or neurologist.

Siblings of a person with Friedreich ataxia who do not show symptoms have a 2 in 3 chance to be a carrier. Other relatives (grandparents, aunts, uncles, and cousins) may also be carriers and wish to have genetic testing if they are planning their own family. If someone is a carrier, it is important to test their partner to determine an accurate recurrence risk for future pregnancies. Genetic counseling is recommended for all immediate family members who wish to have genetic testing. Genetic testing can be coordinated by a geneticist or genetic counselor in your area. The ‘Find a Genetic Counselor’ tool on the National Society of Genetic Counselors website can help you to locate a genetic counselor in your area.

Friedrich ataxia is a genetic condition that is rare. You may not personally know someone outside the family who has this condition in your area. Support groups such as ([link url="www.curefa.org” target=”_blank”>Friedreich’s Ataxia Research Alliance (FARA) and the [link url="www.ataxia.org” target=”_blank”>National Ataxia Foundation can help connect people with Friedrich ataxia to others in their area. Your local Friedreich ataxia specialist may also be able to help you to find someone to connect with your area as doctors who specialize in movement disorders have treated more than on person with Friedreich ataxia and may be able to connect you with another family. Social media is another way to "virtually" meet another family. There are many Facebook groups and other online groups. Another option is the [link url="www.bensfriends.org/” target=”_blank”>Ben’s Friends website which links together individuals with rare conditions.

There is no right or wrong answer for how and when information about Friedreich ataxia should be shared with children. Different families will have different approaches and the decisions they make will depend on their own personal circumstances. It is important to talk to your child openly and sensitively about Friedreich ataxia. Genetic information can be very complicated and difficult to understand or explain. Because of this, some parents may not feel comfortable telling their child about their diagnosis of Friedreich ataxia as they feel it would do more harm than good. Research shows children cope well and are ultimately happy they have been included in dealing with the disease and have the information to make decisions for themselves. Kids who don’t learn about their own risk until later in their lives are often very angry and ultimately distrustful of the family. You may find it helpful to talk with one of your child’s doctors to discuss a plan for explaining Friedreich ataxia to your child. Some parents prefer to tell the child themselves while others feel comfortable telling the child with a medical professional in the room that can answer their questions. Each family is different and there is no correct or wrong way to tell your child.

If your child is experiencing difficulties at school or with their movement or emotions, telling them about their diagnosis can be a positive step in helping the child understand why they may be struggling when compared to their friends or siblings. They may find relief from having this information as it allows them to understand that the problems they are experiencing are not their fault and can help them to make sense of their own situation better.

Studies in the 1980s and 90s reported that the average life expectancy for someone with Friedreich ataxia is approximately thirty to forty years after diagnosis. Heart disease and diabetes were the most common causes of the death in these individuals. Recent medical advances and treatments have improved the life expectancy for those with FA. Some people with less severe features of Friedreich ataxia live into their sixties, seventies, or older. This condition is extremely variable. With proper management and care for the condition, people who have Friedreich ataxia can live long, productive lives.

People with Friedreich ataxia require periodic checkups to monitor their health. They will be checked to see whether the disease has progressed and the possible development of new symptoms. Rare diseases that affect multiple body systems are sometimes managed with 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 for individuals and families.

Depending upon the specific symptoms in an individual with Friedreich ataxia, a multidisciplinary team may have a specialist for neurological disorders (neurologist) who will monitor brain function and health; an eye doctor (ophthalmologist) who can periodically check for optic atrophy and vision loss; a doctor who is trained to diagnose and treat hearing issues (audiologists); 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, physiotherapists physical therapists, and occupational therapists. People with Friedreich ataxia should make their primary care physician aware of symptoms that can develop as the condition progresses including hearing loss, heart disease, and diabetes.

The usual abbreviations for Friedreich ataxia include FA and FRDA.

Friedreich ataxia, or FA, is a genetic condition that affects the nervous system and causes problems with voluntary movement and coordination (ataxia). People with Friedreich ataxia gradually lose their strength and feeling in their arms and legs; develop stiffness in their muscles (spasticity); and have slow, slurred speech (dysarthria). Some people who have Friedreich ataxia can develop a heart condition called hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is a condition where part of the heart wall becomes thickened. This can cause the heart to not work the way it should and can be dangerous if not treated and managed correctly. Approximately two out of every three people who have FA will develop hypertrophic cardiomyopathy. Symptoms of FA typically begin between the ages of 10-15. Most individuals develop symptoms before age 25. There is also a late onset form of Friedreich ataxia where symptoms develop after the age of 25.

Doctors will most often call this condition Friedreich ataxia, Friedreich’s ataxia, or FA. Some doctors will just refer to it as "Friedreich’s."

The doctor of someone with Friedreich ataxia should be watching for problems with swallowing (dysphagia) as choking could become an issue, abnormal curvature of the spine (scoliosis), signs of an enlarged and weakened heart (hypertrophic cardiomyopathy), ask if you snore at night or have difficulty sleeping (obstructive sleep apnea), and screen for diabetes, hearing loss, vision and other eye concerns.

It is important for your doctor to also ask about your emotional and psychological well being. As disease symptoms progress, some people become sad or emotional. Reporting these symptoms to your doctor will allow them to find a specialist who can help you feel better.

Friedreich ataxia is a genetic condition caused by changes in the FXN gene. This gene is responsible for creating a protein called frataxin. Although its exact role isn’t fully understood, frataxin seems to be important in the normal functioning of mitochondria. Mitochondria are responsible for giving our body energy.

The main symptoms of Friedreich ataxia include uncoordinated movements of the arms and legs (ataxia), slurred speech (dysarthria), involuntary side-to-side movements of the eyes (nystagmus), unusual bend in the spine (scoliosis), feet with high arches that do not flatten when bearing weight (pes cavus), and bending or contracture of the toes other than the big toe (hammertoe). People with Friedreich ataxia generally have decreased or absent reflexes. Reflexes are responses that occur when the body receives a certain stimulus.

2 out of every 3 people who have Friedreich ataxia have hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is a condition where part of the heart wall becomes thickened. This can cause the heart to not work the way it should and can be dangerous if not treated and managed correctly. Approximately 1 in every 3 people with Friedreich ataxia will develop diabetes mellitus. Other symptoms include frequent urination, breathing stopping and starting during sleep (sleep apnea), damage to the optic nerve (optic nerve atrophy) and other eye issues, and hearing loss.

Friedrich ataxia is an extremely variable genetic condition. People show symptoms at different ages, some earlier than others. Most people with Friedreich ataxia do not have all of the associated symptoms. It is difficult to predict exactly which symptoms will develop so everyone is screened routinely for all of the associated symptoms.

Many people who are diagnosed with Friedreich ataxia have many questions when they are first diagnosed. If you have not already, it is important to establish care with a neurologist who has experience treating people who have movement disorders (ataxia). The neurologist will monitor the progression of your symptoms over time, prescribe medications that may help, and recommend potential clinical trials or new and upcoming treatments. Meeting with a geneticist or genetic counselor will also be helpful to answer questions about the genetics of Friedreich ataxia. Many people find it helpful to become involved with a support group and speak with other people who have the same condition. There are several good support groups for people with Friedreich ataxia including the [link url="www.curefa.org” target=”_blank”>Friedreich’s Ataxia Research Alliance (FARA) and the [link url="www.ataxia.org” target=”_blank”>National Ataxia Foundation. Often it takes time to adjust to a new diagnosis. If you are having a particularly difficult time adjusting to the diagnosis of Friedreich ataxia, your doctor may make a referral to see a psychologist or psychiatrist. Other specialists including a cardiologist, ophthalmologist, audiologist, otolaryngologist, etc. will be made as needed.

People with Friedreich ataxia are considered high risk for the flu and pneumonia. You should have a discussion with their physician about them and other family members receiving a flu shot annually. You can also discuss with them the possibility of having a vaccine to protect against pneumonia and how that is administered. You should always check with their physician before having these vaccines to be sure that there aren’t any other health reasons why they should not receive the vaccines.

There are many prenatal options available for those who know they are at high risk to have a child with Friedreich ataxia. The three available options are in vitro fertilization using preimplantation genetic diagnosis, chorionic villi sampling, and amniocentesis.

The first option is using reproductive technology to become pregnant. This is known as in vitro fertilization using preimplantation genetic diagnosis (IVF with PGD). Eggs are taken from the woman and sperm is taken from the man and they are combined together outside the body to create an embryo. The embryo is grown in a petri dish until it is a few cells big. Then one cell is tested to see whether or not that embryo has Friedreich ataxia. Only embryos that do not have Friedreich ataxia will be implanted into the mother’s uterus. Once the embryo is implanted, the remainder of the pregnancy proceeds as a normal pregnancy would.

The other two options of chorionic villi sampling and amniocentesis are available to women who wish to become pregnant naturally and test the baby during pregnancy for Friedreich ataxia. Both tests involve looking at the FXN genes and try to find the exact genetic change that was already found in the family. Chorionic villus sampling (CVS) is typically done between 11-13 weeks of pregnancy. CVS is performed using the help of ultrasound in order to find where the baby and the placenta are located. It usually can be done either "transabdominally" or "transcervically". Transabdominally means that the doctor will insert a needle into the woman’s abdomen and take a small sample of the chorionic villi. Chorionic villi are a part of the placenta and usually share the same genetic information as the baby. If it is done transcervically, the doctor will insert a catheter into the cervix and take a sample of the chorionic villi. This is a diagnostic test and does carry a risk of miscarriage of about 1/100. The risks and further details will be explained by your maternal fetal medicine (MFM) specialist before the procedure.

Amniocentesis is typically done between 16-23 weeks of pregnancy although it can be done later in certain situations. It is often called amnio for short. The amnio involves the doctor inserting a needle into the abdomen with the help of ultrasound. The doctor takes a sample of the amniotic fluid that is floating around the baby. The amniotic fluid has the baby’s skin cells floating around in it that have fallen off during development. The sample looks directly at these skin cells to get the genetic information. This is also a diagnostic procedure and has a risk of miscarriage of about 1/300. The risks and further details about the procedure will be explained to you by your doctor. An OB/GYN or an MFM can perform an amniocentesis.

For both procedures, the genetic changes in FXN causing the condition in your family must be known. Also, since routine chromosome analysis can’t detect Friedreich ataxia, prenatal testing for Friedreich ataxia must be organized in advance with your doctor and/or genetic counselor.

Another option if you are not interested in IVF with PGD, chorionic villi sampling, or amniocentesis is to consider egg or sperm donation. In this case, the donor is screened to see if they are a carrier for Friedreich ataxia. If they are not a carrier, then there is very little risk to have a child with Friedreich ataxia.

Friedreich ataxia is not currently part of routine newborn testing. However, if an infant or toddler is showing symptoms of the disease, they should have an evaluation by a medical professional, typically a neurologist, to determine the cause of the symptoms. If they have a sibling who has already been diagnosed with Friedreich ataxia, then genetic testing can be ordered by a geneticist or genetic counselor to diagnose the child. A genetic counselor can be found by using the ‘Find a Counselor’ tool on the National Society of Genetic Counselors website. The geneticist and genetic counselor will coordinate testing and share the results with the patient or family when they are ready. They will also discuss with the patient and the family the inheritance and genetic mechanism of the condition, as well as information about resources, support, and management.

Because one genetic change accounts for a large majority of people with Friedreich ataxia, a simple blood test can diagnose most people with FA. If a person is found to have two copies of the FXN gene with GAA expansions, then the diagnosis of Friedreich ataxia is confirmed.

In rare cases only one GAA expansion is found. Then the diagnosis is possible but not confirmed since both copies of the gene must not be working correctly in order to develop symptoms of FA. In this case, the entire FXN gene should be read, or sequenced, to look for one letter changes, missing letters (deletions), or extra letters (duplications). If a change or deletion is found in addition to the GAA expansion, then the diagnosis is confirmed.

If two expansions or changes are not found in a person that looks like they have Friedreich ataxia, then there is a small chance that a change is present, but has not been found through the genetic testing. In general, if at least one expansion is not detected, then the diagnosis of Friedreich ataxia is unlikely and other diagnoses should be considered. There are many genetic conditions that can present similarly to Friedreich ataxia.

There are currently several clinical trials that are recruiting or soon-to-be recruiting in Friedreich’s Ataxia (FA). These clinical trials are testing potential drug treatments for FA including Methylprednisone, Rosuvastatin, Omaveloxolone, and Acetyl-L-Carnitine.

Several previous studies have shown that there may be a secondary inflammatory response in Friedreich ataxia that may improve with an anti-inflammatory steroid treatment such as Methylprednisone.

Research at the University of Pennsylvania discovered that levels of ApoA-1 protein found in the blood of people with Friedreich ataxia is lower than normal. This protein is the main protein found in high-density lipoprotein (HDL) cholesterol. It’s currently unknown what the significance of low ApoA-1 levels is among Friedreich ataxia patients. The goal of this study is to see if if Rosuvastatin can increase the levels of ApoA-1.

A hallmark of Friedreich ataxia is an impairment of antioxidative defense mechanisms causing an increased sensitivity to oxidative stress. This sensitivity plays a major role in disease progression. Studies have shown that the signaling of erythroid-derived 2-related factor 2 (Nrf2) is impaired in people with Friedreich ataxia. Omaveloxolone has the ability to activate Nrf2 and antioxidant target genes and hopefully become a therapy.

The goal of the Acetyl-L-Carnitine study is to determine how treatment with the medication will affect the hearts of patients with Friedreich ataxia as well as how it may affect other symptoms of Friedreich ataxia such as problems with balance, walking, or upper arm function.

The easiest way to learn updated information about current and new studies in FA is to be a part of the Friedreich’s Ataxia Research Alliance (FARA) patient registry. The registry and information about it can be found on the web at: https://curefa.net/registry/. For a detailed list of currently ongoing clinical trials for Friedreich ataxia, please visit www.clinicaltrials.gov.

As with many degenerative diseases of the nervous system, there is currently no cure or effective treatment for Friedreich ataxia. However, many of the symptoms and accompanying complications can be treated. Doctors can prescribe treatments for diabetes. Some of the heart problems can be treated with medication as well. Orthopedic problems such as foot deformities and scoliosis can be corrected with braces or surgery. Physical therapy may help improve the ability to use the arms and legs. Hearing loss can be treated with hearing aids. Eye problems can be managed and sometimes treated by ophthalmologists.

There are many people researching treatments for Friedreich ataxia. Research has moved forward to the point where clinical trials of proposed treatments are presently occurring for Friedreich ataxia. A full list of them can be found through clinicaltrials.gov. There are multiple study sites open around the United States for many of these trials. Many of these trials are funded by the [link url="www.curefa.org” target=”_blank”>Friedreich Ataxia Research Alliance (FARA). Additional information about research can be found at their website.

Patient registries like the Friedreich’s Ataxia Research Alliance (FARA) patient registry are created to help learn more about genetic conditions like Friedreich’s Ataxia and help connect people to research studies for treatments. This information will be used to design better studies and find people who are interested in joining them as quickly as possible. As FARA says, "Basically, this is a way for you to get
your name and contact information to researchers who will be conducting clinical research trials." The Friedreich’s Ataxia Research Alliance (FARA) patient registry is only for individuals diagnosed with Friedreich’s ataxia.

Studies looking at women with Friedreich ataxia who have given birth found that the disease did not increase the likelihood of them experiencing spontaneous pregnancy loss (miscarriage), preterm (early) labor or preeclampsia (high blood pressure and signs of organ damage). A majority of pregnancies were born through natural (vaginal delivery), and almost 95% of the babies went home at the same time as their mothers. Equal numbers of women with Friedreich ataxia reported that the symptoms of their disease remained the same, got worse, or got better after the pregnancy. Monitoring the heart closely is recommended during a pregnancy. Your obstetrician (OB/GYN) may want you to see a cardiologist during your pregnancy. It is recommended that you speak to your doctor about your pregnancy so that you can receive the appropriate care during the pregnancy.

Genetic testing to determine whether your partner is a carrier for Friedreich ataxia is recommended BEFORE becoming pregnant. Meeting with a genetic counselor or geneticist may be helpful to discuss different options for future pregnancies if your partner is a carrier for Friedreich ataxia.

People with Friedreich ataxia will not always show symptoms. It depends on the age of the person and the number of repeats the person has in both copies of their gene. A young child may not show symptoms of Friedreich ataxia until the ages of 10-15. Once the symptoms start, the person will always show symptoms although they may not be noticeable to everyone around them. Symptoms often start off as mild and progress over time. Everyone with too many repeats in both copies of the FXN gene will show symptoms at some point in their life although it is not possible to predict at exactly what age.

People who have two copies of the FXN gene with an abnormal number of GAA repeats, or one copy with abnormal number of GAA repeats and one with a sequence change in the gene will show symptoms. The number of repeats may be related to the age at which people begin to show symptoms. Typically those with the childhood onset, or typical form have over 500 repeats in each copy of their FXN gene. Those with 300-500 repeats can have the late onset form and those with 66-300 repeats can have the very late onset form. These are general rules found in certain studies but are not always correct. There are people with more repeats that have less severe disease and people who have less repeats and have more severe disease.

People with Friedreich ataxia usually require a wheelchair around 10 years after symptoms first appear. Physical therapy and the use of walkers and braces can help to prolong the ability to walk for as long as possible. It is important to remember each person with Friedreich ataxia is different. Some people do not depend on a wheelchair until much later in life and others may need a wheelchair at an earlier age than expected. Some people who have Friedreich ataxia are able to not use a wheelchair at home and only use it when going out of the house or for long distances. This varies for each person.

Your primary care doctor should be informed of the diagnosis of Friedreich ataxia. They should be informed this is a slowly progressive genetic condition. Your primary care doctor can help provide the referrals that are necessary to see the different specialists to treat the symptoms of Friedreich ataxia.

People who have Friedreich ataxia should be followed closely by a neurologist who has experience treating people who have movement disorders (ataxia). Physical therapy may be useful to help with balance, flexibility, accuracy of limb movements, and management of strength. Occupational therapy may identify risks for people with ataxia and minimize difficulties in daily activities. Routine orthopedic care is necessary to monitor and treat the orthopedic issues that can influence ataxia. People with Friedreich ataxia should have a swallowing evaluation by a speech and language pathologist at the time of diagnosis or symptom onset. General vision screening should be followed by people with Friedreich ataxia. A comprehensive auditory evaluation should be performed at the time of diagnosis and then a hearing screen annually or sooner if there’s a sudden change in hearing. A cardiologist should also be involved to look for evidence of heart disease and to provide treatment if necessary.

When someone has Friedreich ataxia, they have two not working copies of the FXN gene. Each time we have a child, one of those non-working copies will get passed on to their future child. All of their future children will be carriers for Friedreich ataxia. Carriers have one working copy and one not working copy of the gene and are NOT affected with Friedreich ataxia.

It is important to screen the not affected member of the couple to see if they could be a carrier for Friedreich ataxia. If they are not a carrier, their children are at very low risk to develop Friedreich ataxia. If the not affected member of the couple IS a carrier then they have one working and one not working copy of the FXN gene. Each time they have a child there is a 50/50 chance to pass on the working copy or the not working copy. Since the child will automatically get one not working copy from the affected parent, there is a 50% chance for them to get the not working copy from the unaffected carrier parent. In this case there is a 50% chance in each pregnancy for that child to be affected with Friedreich ataxia.

Friedreich ataxia is inherited in an autosomal recessive pattern. We have two copies of the FXN gene, one from each parent. Both parents of a child with Friedreich ataxia must pass a nonworking copy of the FXN gene to that child. People with one working copy and one nonworking copy of the FXN gene are carriers of Friedreich ataxia and do not have the condition. When both parents are carriers, the chance of a child inheriting both of the nonworking copies and having Friedreich ataxia is 1 in 4 or 25%. This risk is for each pregnancy. The risk does not change in future pregnancies. It remains 25% each time a woman becomes pregnant.

Friedreich ataxia is inherited in an autosomal recessive pattern. We have two copies of the FXN gene, one from each parent. Both parents of a child with Friedreich ataxia must pass a nonworking copy of the FXN gene to that child. People with one working copy and one nonworking copy of the FXN gene are carriers of Friedreich ataxia and do not have the condition. When both parents are carriers, the chance of a child inheriting both of the nonworking copies and having Friedreich ataxia is 1 in 4, or 25%.

Donations to help research in Friedreich ataxia can be given to the Friedreich’s Ataxia Research Alliance (FARA) or the National Ataxia Foundation. Donations can also be given to various Friedreich ataxia centers of excellence that can be found on the National Ataxia Foundation website.

One amazing program that helps raise funding for Friedreich ataxia research is the rideAtaxia program through FARA. rideATAXIA is a nation-wide program of bike rides that welcomes people of all abilities to ride, and to raise funds for FARA’s mission to treat and cure FA through research.To learn more about the program, visit the rideAtaxia website.

A diagnosis of Friedreich ataxia requires a careful clinical examination, which includes a medical history and a physical exam. The doctor is looking for balance difficulty, loss of joint sensation, absence of reflexes, and signs of neurological problems. If a person has the signs or symptoms of Friedreich ataxia, genetic testing is needed to confirm the diagnosis. Sometimes a neurologist will order the genetic testing. Typically, a geneticist or genetic counselor will order the genetic testing. A genetic counselor can be found by using the ‘Find a Counselor’ tool on the National Society of Genetic Counselors website. The geneticist and genetic counselor will coordinate testing and share the results with the patient or family when they are ready. They will also discuss with the patient and the family the inheritance of the condition, as well as information about resources, support, and management. Some people meet with a geneticist or genetic counselor after Friedreich ataxia is confirmed.

Clinical research for Friedreich ataxia can be found by searching ‘Friedreich ataxia’ on www.clinicaltrials.gov. Some ataxia centers of excellence at academic institutions may also have research or trials being performed at their location. Research studies will vary at different academic centers.

The easiest way to learn updated information about current and new studies in FA is to be a part of the Friedreich’s Ataxia Research Alliance (FARA) patient registry. The registry and information about it can be found on the web at: https://curefa.net/registry/.

Ataxia Clinics are specialty clinics that are committed to providing specialized medical care to people with ataxia. These clinics are devoted to the diagnosis, treatment, and management of ataxias, as well as prevention and management of complications affecting this group of people. Clinics that specialize in Friedreich ataxia and other forms of ataxia can be found on the National Ataxia Foundation website. Local support groups for those with ataxia also may have recommendations for doctors.

Friedreich ataxia is one of the most common autosomal recessive forms of ataxia occurring in approximately 1 in 40,000 people. It is most commonly found in people of European, Middle Eastern, Southeast Asian (Indian) or North African ancestry and is rarely found in other populations. Between 1 in 60 and 1 in 100 people are thought to be carriers for Friedreich ataxia.

Individuals with Friedreich ataxia should avoid walking on floors or surfaces that are uneven and difficult to walk on. This increases the risk they could fall. Alcohol is not recommended for individuals who have ataxia of any kind, including Friedreich ataxia. Alcohol use can make symptoms of ataxia worse. Illegal drug use should be avoided as this can also make ataxia symptoms worse.

Other diseases that may be confused for Friedreich ataxia include those which involve weakness, numbness, or pain in the hands and feet (peripheral neuropathy) such as Charcot Marie Tooth type 1 and type 2 and spinocerebellar ataxia with axonal neuropathy (SCAN1). Other causes of uncoordinated movement (ataxia) such as ataxia with vitamin E deficiency and ataxia with oculomotor apraxia type 1 and type 2 can also present with similar features to Friedreich ataxia. It is important to meet with a neurologist, geneticist, genetic counselor, or other health professional who has experience with various types of ataxia to ensure you have the correct diagnosis. Genetic testing is always recommended to confirm the diagnosis.

Friedreich ataxia can also be called Friedreich spinocerebellar ataxia. Many people refer to it as Friedreich’s ataxia. Common abbreviations are FA and FRDA.

Many of the symptoms and accompanying complications can be treated. Doctors can prescribe treatments for diabetes. People with FA who have heart conditions are followed by a cardiologist who sometimes prescribe medications. Orthopedic problems such as foot deformities and scoliosis can be corrected with braces or surgery. Physical therapy can help with using the arms and legs. Hearing loss can be treated with hearing aids. Eye problems can be managed and sometimes treated by ophthalmologists.

There are several excellent support groups for people with Friedreich ataxia including the Friedreich’s Ataxia Research Alliance (FARA) and the National Ataxia Foundation. The mission of the Friedreich’s Ataxia Research Alliance is to raise money for research and promote public awareness to help find a cure for Friedreich ataxia. The National Ataxia Foundation is dedicated to improving the lives of those with ataxia by providing information about support groups, education, and research. You can also ask your doctor if they know anyone else with Friedreich ataxia who may be able to act as a peer mentor or a source of support. There are often local support groups that hold events. Your Friedreich ataxia specialists will let you know if there are any local groups or events.

There are many other smaller support groups for Friedreich ataxia. These include FA Parents Group, Friedreich ataxia Network, the Muscular Dystrophy Association, and the FA Project.

Friedrich ataxia is a genetic disease. In order to determine the diagnosis of Friedreich ataxia you must have two changes in the FXN gene. All types of Friedreich ataxia have a genetic cause.

If someone has genetic testing for Friedreich ataxia and is negative, there are many other genetic and non-genetic causes of ataxia. Ataxia is caused by a degeneration or loss of the nerve cells in the part of the brain responsible for controlling muscle coordination. There are a number of ways in which this damage can occur including head trauma, stroke, transient ischemic attack (TIA), cerebral palsy, multiple sclerosis (MS), chickenpox, paraneoplastic syndromes, tumors, toxic reactions, and deficiencies of vitamin E or vitamin B12. There are also a number of other genetic conditions that can present with symptoms similar to Friedreich ataxia. If your Friedreich ataxia genetic test result was normal (negative), considering seeing a movement disorder specialist (specialized neurologist) to determine the cause of your ataxia. Determining the correct cause is important as some forms of ataxia are treatable.

Many people who have Friedreich ataxia recall difficulties with coordination being their first signs of their disease. For example, someone who was very athletic is suddenly falling frequently and is unable to run as fast as they used to. For adolescents, they may describe these symptoms as something "odd," "different," or "changing" with their body.

There are different types of Friedreich ataxia. Approximately 75% of people who have Friedreich ataxia have the typical, or childhood onset form. These individuals typically show symptoms between the ages of 10-15. The youngest reported patient to show symptoms is 5 years of age.

Approximately 25% of people who have Friedreich ataxia have an "atypical" or later onset form. There are two different types of the later onset form.