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What Is Friedreich's Ataxia?
Friedreich ataxia is a neurodegenerative movement disorder. This means that the nerve fibers leading from the spinal cord to the arms and legs are deteriorating . This results in great difficulty with anything involving movement and coordination, especially standing and walking.
Symptoms primarily include progressive difficulty with overall coordination, also known as ataxia. Other symptoms may include severe fatigue, chest pain, an irregular pulse, musculoskeletal issues such as weakened muscles or foot deformities, and difficulty with hearing, vision, and speech.
Treatments focus on addressing your unique case and need for support. They include a combination of symptomatic therapies, physical therapy, speech therapy, possible surgery, and treatment of underlying and associated conditions.
You should visit your primary care physician to confirm the diagnosis and discuss treatment options for managing symptoms
Friedreich's Ataxia Symptoms
Symptoms can be categorized as those that affect coordination, the chest and heart, the musculoskeletal system, and the mouth, ears and throat.
Components of the nervous system that are mainly affected are the spinal cord and the cerebellum, which control coordination. The following nervous system symptoms are progressive, meaning they will get worse over time; however progression is typically slow :
- Ataxia: Difficulty coordinating voluntary movements of the arms and legs will occur, as ataxia itself is the primary symptom.
- Unsteadiness: This can occur even when standing still.
- Difficulty with normal tasks: This includes trying to walk or almost any other task.
- Stumbling and falling
- Loss of sense of touch
- Loss of reflexes: Especially the knee-jerk reflex.
Chest and heart-related symptoms
Chest and heart symptoms are common, and occur in around 90 percent of people with Friedreich ataxia . These include:
- Irregular pulse: This means a varied pulse rate that is too fast or too slow.
- Severe fatigue
- Chest pain
- High blood sugar
Some muscles keep their normal strength while others become weak, forcing the body into abnormal positions, which may lead to :
- Scoliosis: This is a curvature of the spine, which may occur from one side to the other as seen from behind.
- Foot deformities: Feet may turn inward or one or both feet may appear contracted and shortened with an abnormally high arch.
- Weak and atrophied muscles: This will occur from the lack of use.
- Spasticity: This is severe muscle tightness most often seen in late-onset cases.
Mouth, ear and throat symptoms
This condition may affect these areas, presenting with:
- Difficulty swallowing: This is due to the loss of muscle control.
- Respiratory infections from aspiration
- Difficulty with vision: You may experience a gradual loss of vision due to nerve damage, or nystagmus , which is jerky, flicking, involuntary movement of the eyes.
- Gradual loss of hearing: This is due to nerve damage.
- Dysarthria: This is slurred or unclear speech.
Friedreich's Ataxia Causes
"Ataxia" literally means "without order," and refers to a loss of control or coordination of the voluntary muscle movements. "Friedreich" refers to Dr. Nikolaus Friedreich, a German doctor who, in 1863, first described the condition in writing . Friedreich ataxia is genetic, or hereditary. The condition is passed down through families and individuals are born with it. There is no other way for a person to get this disease. Certain factors can help determine the prevalence of this condition, including, family history, ethnicity, and age. There are also a few other disorders that are similar and may have some sort of link to Friedreich ataxia.
Genetics and gender
As this is mainly a hereditary or genetic condition it is likely that there will be a known family history . It is possible for a person to carry the genes for it and not be affected. Parents may not have the condition themselves but still have a child who does.Males and females are equally affected by Friedreich ataxia.
Populations whose family lines trace to the Middle East, India, North Africa, and Europe are often more affected .
Symptoms may appear at different ages, depending on which type of the condition the person has . The later the symptoms appear, the less severe they will be and the slower they will progress.
- FA: Friedreich Ataxia most often begins from ages five to 25.
- LOFA: Late Onset Friedreich Ataxia begins from ages 26 to 39.
- VLOFA: Very Late Onset Friedreich Ataxia begins after age 40.
- FARR: Friedreich Ataxia with Retained Reflexes is usually seen along with LOFA and VLOFA. In this form, tendon reflexes still function for some ten years after onset of the disease.
Related and similar causes
There are many other forms of ataxia, which are often confused with Friedreich ataxia. If any form of ataxia is suspected, it is important to see a medical provider as soon as possible in order to get the correct diagnosis and begin the appropriate treatment. These include :
- Charcot-Marie-Tooth (CMT) disease: This has nothing to do with teeth; it is an inherited neurological illness named for the three doctors who first wrote about it in 1886 .
- AVED: Ataxia with vitamin E deficiency
- SCAN1: Spinocerebellar ataxia with axonal neuropathy
- Ataxia telangiectasia
Friedreich's Ataxia Symptom Checker
Take a quiz to find out if you have Friedreich's Ataxia
Treatment Options and Prevention for Friedreich's Ataxia
Friedreich ataxia is considered a chronic illness. It cannot be cured, but the symptoms can be treated and managed to improve quality of life. Treatments will be given to address the symptoms as much as possible and are unique to each case. Treatments include medications to treat other conditions that can also help alleviate FA, further medical treatments, lifestyle changes, and assistive devices.
Medications for other conditions
Because Friedreich ataxia affects the nerves and muscles, its effects often spread to other parts of the body. Complications and secondary illnesses may appear in other systems and these must be monitored closely. Certain medications to treat other conditions may also be used to alleviate Friedreich ataxia, such as :
Anti-heart failure medications: Such as those for hypertrophic cardiomyopathy, which is enlargement of the heart muscle tissue. This makes it difficult for the heart to work properly and leads to arrhythmia (abnormal heartbeat).
Insulin injections or oral hypoglycemic medications: These are used to treat diabetes
Further medical treatments
Beyond medications listed above, people with FA may also benefit from various treatments likely to be coordinated by a medical team, including:
- Speech therapy: Difficulty speaking is caused by the same loss of coordination that causes difficulty walking. Speech therapy is often recommended and can be helpful.
Physical therapy: Specialized physical therapy is helpful to many people. Your medical provider can give you a referral to the right therapist.
Surgery: This may be necessary, and can help with abnormal curvature of the spine (scoliosis) or abnormally contracted feet.
- Counseling: Psychological support and counseling may be used to help you and your family cope with the emotional challenges brought about by the illness .
- Genetic counseling: This type of counseling may be used for the families of those with Friedreich ataxia. This will allow them to know whether they may develop the illness later in life or carry the genes for the condition and possibly have children who develop it.
Certain lifestyle adaptations may be made to adjust daily activities to help those with this condition. This includes:
- Maintain participation: It's important to remember that even if the person with Friedreich ataxia has trouble speaking and walking, the mind remains unaffected. Treatment should emphasize not only keeping the person comfortable, but finding ways to allow them to communicate and participate in daily life as normally as possible.
- Continue life activities as allowed: Upper body strength generally remains for some time and may allow a person to work and have more independence.
Assistive devices and medication
Certain devices may make living with this condition easier, including:
- Hearing aids
- Medication:For nystagmus, or flicking eye movements
- Walking and transportation aids: This includes canes, walkers, leg braces, or wheelchairs. Most people begin using a wheelchair within one to two decades of being diagnosed.
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When to Seek Further Consultation for Friedreich's Ataxia
This condition should be addressed as soon as it is suspected, so that appropriate treatment and support can begin right away.
As the disease progresses
The person will become severely limited in what they are able to do. Your medical provider can refer you to the appropriate resources for help with care and management.
If there are signs of major illness
If there are signs of either of the two major illnesses associated with Friedreich ataxia, the person should see a medical provider right away, including:
- Cardiomyopathy: This is an enlarged heart, which can lead to an irregular heart rhythm (arrhythmia) and palpitations.
Questions Your Doctor May Ask to Determine Friedreich's Ataxia
To diagnose this condition, your doctor would likely ask about the following symptoms and risk factors.
- Is your difficulty walking constant or come-and-go?
- How difficult is it to walk?
- How long has your walking difficulty been going on?
- Has your walking difficulty gotten better or worse?
- Have you been feeling more tired than usual, lethargic or fatigued despite sleeping a normal amount?
If you've answered yes to one or more of these questions
Friedreich's Ataxia Symptom Checker
Take a quiz to find out if you have Friedreich's Ataxia
- Friedreich Ataxia Fact Sheet. National Institute of Neurological Disorders and Stroke. ninds.nih.gov. Updated August 15, 2018. NINDS Link
- Friedreich's Ataxia (FA). Muscular Dystrophy Association. mda.org. Published Jan. 18, 2016. MDA Link
- Cardiac problems in Friedreich's Ataxia. Ataxie Ataxia Canada. lacaf.org. Published June 24, 2014. LACAF Link
- Friedreich ataxia. Genetic and Rare Disease Information Center. raredisease.info.nih.gov. Updated May 22, 2015. Rare Disease Link
- Koeppen AH. Nikolaus Friedreich and degenerative atrophy of the dorsal columns of the spinal cord. Journal of neurochemistry. 2013;126(0 1):4-10. Published August 2013. J Neurochem Link
- What is FA? Friedreich's ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder. About one in 50,000 people in the United States have Friedreich's ataxia. Friedreich's Ataxia Research Alliance. curefa.org. Cure FA Link
- Ashley CN, Hoang KD, Lynch DR, Perlman SL, Maria BL. Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions. Journal of child neurology. 2012;27(9):1095-1120. Published September 2012. J Child Neurol Link
- Friedreich ataxia. Genetics Home Reference. ghr.nlm.nih.gov. Published Sept. 11, 2018. Genetics Home Reference Link
- Friedreich's Ataxia. National Organization for Rare Disorders. rarediseases.org. Published 2018. Rare Diseases Link
- Charcot-Marie-Tooth Disease (CMT). Muscular Dystrophy Association. mda.org. MDA Link
- Family Support Resources: Navigating the terrain of a new diagnosis or a new development in an existing disease can be overwhelming. When traveling through new territory, it is helpful to have a map or a guide. Friedreich's Ataxia Research Alliance. curefa.org. Cure FA Link
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