Tag Archives: cure

Friedreich’s Ataxia

Friedreich’s ataxia (also called FA or FRDA) is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s.

In Friedreich’s ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes. The disorder does not affect thinking and reasoning abilities (cognitive functions).

Friedreich’s ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent. Although rare, Friedreich’s ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. Both male and female children can inherit the disorder.

What are the signs and symptoms?
Symptoms typically begin between the ages of 5 and 15 years, although they sometimes appear in adulthood and on rare occasions as late as age 75. The first symptom to appear is usually gait ataxia, or difficulty walking. The ataxia gradually worsens and slowly spreads to the arms and the trunk. There is often loss of sensation in the extremities, which may spread to other parts of the body. Other features include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich’s ataxia develop scoliosis (a curving of the spine to one side), which often requires surgical intervention for treatment.

Dysarthria (slowness and slurring of speech) develops and can get progressively worse. Many individuals with later stages of Friedreich’s ataxia develop hearing and vision loss.

Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich’s ataxia, such as hypertrophic cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common.

About 20 percent of people with Friedreich’s ataxia develop carbohydrate intolerance and 10 percent develop diabetes. Most individuals with Friedreich’s ataxia tire very easily and find that they require more rest and take a longer time to recover from common illnesses such as colds and flu.

The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals may become completely incapacitated.

Friedreich’s ataxia can shorten life expectancy, and heart disease is the most common cause of death. However, some people with less severe features of Friedreich’s ataxia live into their sixties, seventies, or older.

How is Friedreich’s ataxia diagnosed?
A diagnosis of Friedreich’s ataxia requires a careful clinical examination, which includes a medical history and a thorough physical exam, in particular looking for balance difficulty, loss of proprioception (joint sensation), absence of reflexes, and signs of neurological problems. Genetic testing now provides a conclusive diagnosis. Other tests that may aid in the diagnosis or management of the disorder include:

  • electromyogram (EMG), which measures the electrical activity of muscle cells,
  • nerve conduction studies, which measure the speed with which nerves transmit impulses,
  • electrocardiogram (ECG), which gives a graphic presentation of the electrical activity or beat pattern of the heart,
  • echocardiogram, which records the position and motion of the heart muscle,
  • blood tests to check for elevated glucose levels and vitamin E levels, and
  • magnetic resonance imaging (MRI) or computed tomography (CT) scans, tests which provide brain and spinal cord images that are useful for ruling out other neurological conditions.

How is Friedreich’s ataxia inherited?
Friedreich’s ataxia is an autosomal recessive disease, meaning individuals only develop symptoms if they inherit two copies of the defective FXN gene, one from their father and one from their mother. A person who has only one abnormal copy of the gene is called a carrier. A carrier will not develop the disease but could pass the gene mutation on to his or her children. If both parents are carriers, their children will have a 1 in 4 chance of having the disease and a 1 in 2 chance of inheriting one abnormal gene that they, in turn, could pass on to their children. About one in 90 Americans of European ancestry carries an abnormal FXN gene.

In 1996, an international research team identified the Friedreich’s ataxia gene on chromosome 9. The FXN gene codes for production of a protein called “frataxin.” In the normal version of the gene, a sequence of DNA (labeled “GAA”) is repeated between 7 and 22 times. In the defective FXN gene, the repeat occurs over and over again—hundreds, even up to a thousand times.

This abnormal pattern, called a triplet repeat expansion, has been implicated as the cause of several dominantly inherited diseases, but Friedreich’s ataxia is the only known recessive genetic disorder caused by the problem. Almost all people with Friedreich’s ataxia have two copies of this mutant form of FXN, but it is not found in all cases of the disease. About two percent of affected individuals have other defects in the FXN gene that are responsible for causing the disease.

The triplet repeat expansion greatly disrupts the normal production of frataxin. Frataxin is found in the energy-producing parts of the cell called mitochondria. Research suggests that without a normal level of frataxin, certain cells in the body (especially peripheral nerve, spinal cord, brain and heart muscle cells) cannot effectively produce energy and have been hypothesized to have a buildup of toxic byproducts leading to what is called “oxidative stress.” It also may lead to increased levels of iron in the mitochondria. When the excess iron reacts with oxygen, free radicals can be produced. Although free radicals are essential molecules in the body’s metabolism, they can also destroy cells and harm the body. Research continues on this subject (see section on “What research is being done?”).

Can Friedreich’s ataxia be cured or treated?
As with many degenerative diseases of the nervous system, there is currently no cure or effective treatment for Friedreich’s ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Doctors can prescribe treatments for diabetes, if present; 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 prolong use of the arms and legs. Advances in understanding the genetics of Friedreich’s ataxia are leading to breakthroughs in treatment. Research has moved forward to the point where clinical trials of proposed treatments are presently occurring for Friedreich’s ataxia.

What services are useful to Friedreich’s ataxia patients and their families?
Genetic testing is essential for proper clinical diagnosis, and can aid in prenatal diagnosis and determining a person’s carrier status. Genetic counselors can help explain how Friedreich’s ataxia is inherited. Psychological counseling and support groups for people with genetic diseases may also help affected individuals and their families cope with the disease.

A primary care physician can screen people for complications such as heart disease, diabetes and scoliosis, and can refer individuals to specialists such as cardiologists, physical therapists, and speech therapists to help deal with some of the other associated problems.

Support and information for families is also available through a number of private organizations. These groups can offer ways to network and communicate with others affected by Friedreich’s ataxia. They can also provide access to patient registries, clinical trials information, and other useful resources.

What research is being done?
Within the Federal government the National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), has primary responsibility for sponsoring research on neurological disorders. As part of this mission, the NINDS conducts research on Friedreich’s ataxia and other forms of inherited ataxias at its facilities at the NIH and supports additional studies at medical centers throughout the United States. Several nonprofit organizations also provide substantial support research (see the section on “Where can I get more information?”).

Researchers are optimistic that they have begun to understand the causes of the disease, and work has begun to develop effective treatments and prevention strategies for Friedreich’s ataxia. Scientists have been able to create various models of the disease in yeast and mice which have facilitated understanding the cause of the disease and are now being used for drug discovery and the development of novel treatments.

Studies have revealed that frataxin is an important mitochondrial protein for proper function of several organs. Yet in people with the disease, the amount of frataxin in affected cells is severely reduced. It is believed that the loss of frataxin makes the nervous system, heart, and pancreas particularly susceptible to damage from free radicals (produced when the excess iron reacts with oxygen). Once certain cells in these tissues are destroyed by free radicals they cannot be replaced. Nerve and muscle cells also have metabolic needs that may make them particularly vulnerable to this damage. Free radicals have been implicated in other degenerative diseases such as Parkinson’s and Alzheimer’s diseases.

Based upon this information, scientists and physicians have tried to reduce the levels of free radicals, also called oxidants, using treatment with “antioxidants.” Initial clinical studies in Europe suggested that antioxidants like coenzyme Q10, vitamin E, and idebenone may offer individuals some limited benefit. However, recent clinical trials in the United States and Europe have not revealed effectiveness of idebenone in people with Friedreich’s ataxia, but more powerful modified forms of this agent and other antioxidants are in trials at this time. There is also a clinical trial to examine the efficacy of selectively removing excess iron from the mitochondria.

Scientists also are exploring ways to increase frataxin levels through drug treatments, genetic engineering and protein delivery systems. Several compounds that are directed at increasing levels of frataxin may be brought to clinical trials in the near future. To check for current trials, visit http://www.clinicaltrials.gov. Additional information is available from the groups listed in the following section.

Armed with what they currently know about frataxin and Friedreich’s ataxia, scientists are working to better define fraxatin’s role, clarify how defects in iron metabolism may be involved in the disease process, and explore new therapeutic approaches for therapy.

Leukemia Awareness

What Is Leukemia?
Leukemia is a cancer of the white blood cells, which help fight infection. It is caused by the uncontrolled growth of these cells. Leukemia starts in the bone marrow,
which is the spongy part inside the bones where blood cells are made. The cancer cells spread to the blood that circulates in the arteries and veins.
What Are the Key Statistics About Leukemia?
  • The American Cancer Society estimates that 54,270 people will be diagnosed with leukemia this year.
  • About 24,450 people are expected to die from leukemia in the year 2015.
  • Leukemia is commonly thought of as a childhood disease, yet it is diagnosed 10 times more often in adults
What Are the Types of Leukemia?
  • Based on the time it takes one to develop the disease, leukemia has two forms,acute and chronic leukemia.
  • Acute leukemia begins over a short period of time. In acute leukemia, there is a fast growth of immature cells in the bone marrow and peripheral blood.
  • Chronic leukemia develops over a longer period of time. Compared to acute leukemia, it has more mature cells in the bone marrow and peripheral blood.
  • Based on the type of blood cells, leukemia is divided into lymphocytic and myelogenous leukemia.
What Are the Signs and Symptoms of Leukemia?
  • There are no exact signs and symptoms of leukemia.
  • General symptoms include fatigue, or lack of energy, and flu-like symptoms including fever.
  • A loss of appetite may also occur.
  • Shortness of breath when active and a pale color of the skin and mucous membranes (this includes the lining of the inside of the nose and mouth). These symptoms are related to anemia, which is a decrease in the red blood cells that carry oxygen.
  • Easy bruising and bleeding due to a drop in the platelet count. Platelets are part of the blood cells that help form blood clots.Poor wound healing and infections.
  • This is because many of the white cells are immature and therefore not able to do their job.
What Are the Causes of Leukemia?
  • The exact cause of leukemia is not known.
  • In very rare cases, chemotherapy or radiation therapy used to treat one cancer leads to leukemia.
  • There are no known ways to prevent leukemia.

September is Childhood Cancer Awareness Month

September is Childhood Cancer Awareness Month

Did you know?:

  • 1 in every 285 children in the U.S. will be diagnosed with cancer
  • In the U.S., one out of every five children with cancer will not survive
  • The vast majority of kids who do survive will suffer long-term side effects
  • 14,583 kids will be diagnosed with cancer this month alone

And every single one of them is hoping that the next treatment is the one that will save their life.

For more information you can visit St. Jude’s Website

Rust Treatment

Owning any type of vehicle means that you have to commit to regular service and maintenance to keep it in good condition. Owning a wheelchair van and adaptive equipment is no different – you still need regular service to keep everything operating the way it should. However, it comes with some additional caveats – you can’t just go to any service center and ensure that you’re maintaining your wheelchair van or mobility equipment correctly.

Here at our Mobility Center, not only do we understand the importance of maintaining your mobility vehicle and adaptive equipment, but we take the needed steps to ensure that everything is always in top condition. No other mobility dealer (that we know of) offers the level of maintenance offered by us.

Rust Maintenance
Vehicles today are subject to rust and corrosion due to moisture, humidity, tons of road salt and other airborne pollutants that can cause rapid deterioration of your wheelchair van. If neglected, the damages can make your mobility investment of little value.  The thousands of yearly miles, environments and exposure to the elements of larger vehicles means they are a lot more likely to suffer from the effects of corrosion. Correct rust proofing on a regular basis can ensure that your vehicle does not suffer from corrosion related vehicle downtime and keep your van from falling apart.

** We highly recommend that everyone gets their wheelchair vans rust proofed at least twice a year. Once in Spring and again in the Fall. **

If you consider that new vehicles undergo thousands of spot welds and numerous bends and folds during assembly; this process damages the automobile coating systems, exposing these panels to corrosion. Besides body-panel damage, certain mechanical parts are also at risk – suspension mounts, hood-locking mechanisms, door hinges, brake cables – which are all susceptible to the damaging effects of rust on your wheelchair van.

To protect your vehicle against corrosion our rust proofing formula does more than just cover the metal required. A rust proofing product must be applied as a high-pressured spray, ensuring protection to your vehicle’s most critical areas by penetrating, displacing existing moisture and protecting the many vulnerable crevices of your automobile.

Benefits of rust treatment
Prevention is better than a cure. There are a number of products that can offer prevention against rust. Products are available either as oils, waxes, fluids and coatings.  The range is vast. Our rust prevention processes, products, plan and application have been found to be very effective and developed over more than 25 years and still remain affordable.

We are the only mobility dealer in New England to offer this service.
Our rust proofing processes is ever evolving and has been for more than 25 years.

Rust Treatment

Owning any type of vehicle means that you have to commit to regular service and maintenance to keep it in good condition. Owning a wheelchair van and adaptive equipment is no different – you still need regular service to keep everything operating the way it should. However, it comes with some additional caveats – you can’t just go to any service center and ensure that you’re maintaining your wheelchair van or mobility equipment correctly.

Here at our Mobility Center, not only do we understand the importance of maintaining your mobility vehicle and adaptive equipment, but we take the needed steps to ensure that everything is always in top condition. No other mobility dealer (that we know of) offers the level of maintenance offered by us.

Rust Maintenance
Vehicles today are subject to rust and corrosion due to moisture, humidity, tons of road salt and other airborne pollutants that can cause rapid deterioration of your wheelchair van. If neglected, the damages can make your mobility investment of little value.  The thousands of yearly miles, environments and exposure to the elements of larger vehicles means they are a lot more likely to suffer from the effects of corrosion. Correct rust proofing on a regular basis can ensure that your vehicle does not suffer from corrosion related vehicle downtime and keep your van from falling apart.

** We highly recommend that everyone gets their wheelchair vans rust proofed at least twice a year. Once in Spring and again in the Fall. **

If you consider that new vehicles undergo thousands of spot welds and numerous bends and folds during assembly; this process damages the automobile coating systems, exposing these panels to corrosion. Besides body-panel damage, certain mechanical parts are also at risk – suspension mounts, hood-locking mechanisms, door hinges, brake cables – which are all susceptible to the damaging effects of rust on your wheelchair van.

To protect your vehicle against corrosion our rust proofing formula does more than just cover the metal required. A rust proofing product must be applied as a high-pressured spray, ensuring protection to your vehicle’s most critical areas by penetrating, displacing existing moisture and protecting the many vulnerable crevices of your automobile.

Benefits of rust treatment
Prevention is better than a cure. There are a number of products that can offer prevention against rust. Products are available either as oils, waxes, fluids and coatings.  The range is vast. Our rust prevention processes, products, plan and application have been found to be very effective and developed over more than 25 years and still remain affordable.

We are the only mobility dealer in New England to offer this service.
Our rust proofing processes is ever evolving and has been for more than 25 years.

It’s Time To Rust Proof Your Vehicle!

Spring has sprung
The snow is gone
& Rain has come
It’s time to rust proof your vehicle!

Owning any type of vehicle means that you have to commit to regular service and maintenance to keep it in good condition. Owning a wheelchair van and adaptive equipment is no different – you still need regular service to keep everything operating the way it should. However, it comes with some additional caveats – you can’t just go to any service center and ensure that you’re maintaining your wheelchair van or mobility equipment correctly.

Here at our Mobility Center, not only do we understand the importance of maintaining your mobility vehicle and adaptive equipment, but we take the needed steps to ensure that everything is always in top condition. No other mobility dealer (that we know of) offers the level of maintenance offered by us.

Rust Maintenance
Vehicles today are subject to rust and corrosion due to moisture, humidity, tons of road salt and other airborne pollutants that can cause rapid deterioration of your wheelchair van. If neglected, the damages can make your mobility investment of little value.  The thousands of yearly miles, environments and exposure to the elements of larger vehicles means they are a lot more likely to suffer from the effects of corrosion. Correct rust proofing on a regular basis can ensure that your vehicle does not suffer from corrosion related vehicle downtime and keep your van from falling apart.

** We highly recommend that everyone gets their wheelchair vans rust proofed at least twice a year. Once in Spring and again in the Fall. **

If you consider that new vehicles undergo thousands of spot welds and numerous bends and folds during assembly; this process damages the automobile coating systems, exposing these panels to corrosion. Besides body-panel damage, certain mechanical parts are also at risk – suspension mounts, hood-locking mechanisms, door hinges, brake cables – which are all susceptible to the damaging effects of rust on your wheelchair van.

To protect your vehicle against corrosion our rust proofing formula does more than just cover the metal required. A rust proofing product must be applied as a high-pressured spray, ensuring protection to your vehicle’s most critical areas by penetrating, displacing existing moisture and protecting the many vulnerable crevices of your automobile.

Benefits of rust treatment
Prevention is better than a cure. There are a number of products that can offer prevention against rust. Products are available either as oils, waxes, fluids and coatings.  The range is vast. Our rust prevention processes, products, plan and application have been found to be very effective and developed over more than 25 years and still remain affordable.

We are the only mobility dealer in New England to offer this service.
Our rust proofing processes is ever evolving and has been for more than 25 years.

Spring Rust Treatment

Owning any type of vehicle means that you have to commit to regular service and maintenance to keep it in good condition. Owning a wheelchair van and adaptive equipment is no different – you still need regular service to keep everything operating the way it should. However, it comes with some additional caveats – you can’t just go to any service center and ensure that you’re maintaining your wheelchair van or mobility equipment correctly.

Here at our Mobility Center, not only do we understand the importance of maintaining your mobility vehicle and adaptive equipment, but we take the needed steps to ensure that everything is always in top condition. No other mobility dealer offers the level of maintenance offered by us.

Rust Maintenance
Vehicles today are subject to rust and corrosion due to moisture, humidity, tons of road salt and other airborne pollutants that can cause rapid deterioration of your wheelchair van. If neglected, the damages can make your mobility investment of little value.  The thousands of yearly miles, environments and exposure to the elements of larger vehicles means they are a lot more likely to suffer from the effects of corrosion. Correct rust proofing on a regular basis can ensure that your vehicle does not suffer from corrosion related vehicle downtime and keep your van from falling apart.

** We highly recommend that everyone gets their wheelchair accessible vehicles rust proofed at least twice a year. Once in Spring and again in the Fall. **

If you consider that new vehicles undergo thousands of spot welds and numerous bends and folds during assembly; this process damages the automobile coating systems, exposing these panels to corrosion. Besides body-panel damage, certain mechanical parts are also at risk – suspension mounts, hood-locking mechanisms, door hinges, brake cables – which are all susceptible to the damaging effects of rust on your wheelchair van.

To protect your vehicle against corrosion our rust proofing formula does more than just cover the metal required. A rust proofing product must be applied as a high-pressured spray, ensuring protection to your vehicle’s most critical areas by penetrating, displacing existing moisture and protecting the many vulnerable crevices of your automobile.

Benefits of rust treatment
Prevention is better than a cure. There are a number of products that can offer prevention against rust. Products are available either as oils, waxes, fluids and coatings.  The range is vast. Our rust prevention processes, products, plan and application have been found to be very effective and developed over more than 25 years and still remain affordable.

We are the only mobility dealer in New England to offer this service.

Our rust proofing processes is ever evolving and has been for more than 25 years.

Congenital Heart Defects: Frequently Asked Questions

What is a congenital heart defect?

  • Congenital heart defects (CHDs) are problems with the heart’s structure that are present at birth.
  • Common examples include holes in the inside walls of the heart and narrowed or leaky valves. In more severe forms of CHDs, blood vessels or heart chambers may be missing, poorly formed, and/or in the wrong place.

How common are congenital heart defects?

  • CHDs are the most common birth defects. CHDs occur in almost 1% of births.
  • An approximate 100-200 deaths are due to unrecognized heart disease in newborns each year. These numbers exclude those dying before diagnosis.
  • Nearly 40,000 infants in the U.S. are born each year with CHDs.
  • CHDs are as common as autism and about twenty-five times more common than cystic fibrosis.
  • Approximately two to three million individuals are thought to be living in the United States with CHDs. Because there is no U.S. system to track CHDs beyond early childhood, more precise estimates are not available.
  • Thanks to improvements in survival, the number of adults living with CHDs is increasing. It is now believed that the number of adults living with CHDs is at least equal to, if not greater than, the number of children living with CHDs.

What is the health impact of congenital heart defects?

  • CHDs are the most common cause of infant death due to birth defects.
  • Approximately 25% of children born with a CHD will need heart surgery or other interventions to survive.
  • Over 85% of babies born with a CHD now live to at least age 18. However, children born with more severe forms of CHDs are less likely to reach adulthood.
  • Surgery is often not a cure for CHDs. Many individuals with CHDs require additional operation(s) and/or medications as adults.
  • People with CHDs face a life-long risk of health problems such as issues with growth and eating, developmental delays, difficulty with exercise, heart rhythm problems, heart failure, sudden cardiac arrest or stroke.
  • People with CHDs are now living long enough to develop illnesses like the rest of the adult population, such as high blood pressure, obesity and acquired heart disease.
  • CHDs are now the most common heart problem in pregnant women.

What causes congenital heart defects?

  • Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions.
  • Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. Because the heart is formed so early in pregnancy, the damage may occur before most women know they are pregnant.
  • Environmental exposures that may be related to risk of having a CHD include the mother’s diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. Maternal obesity, smoking, and some infections also may raise the risk of having a baby with a CHD. Preventing these risk factors before a pregnancy is crucial.
  • A baby’s risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.

Friedreich’s Ataxia

Friedreich’s ataxia (also called FA or FRDA) is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s.

In Friedreich’s ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes. The disorder does not affect thinking and reasoning abilities (cognitive functions).

Friedreich’s ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent. Although rare, Friedreich’s ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. Both male and female children can inherit the disorder.

What are the signs and symptoms?
Symptoms typically begin between the ages of 5 and 15 years, although they sometimes appear in adulthood and on rare occasions as late as age 75. The first symptom to appear is usually gait ataxia, or difficulty walking. The ataxia gradually worsens and slowly spreads to the arms and the trunk. There is often loss of sensation in the extremities, which may spread to other parts of the body. Other features include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich’s ataxia develop scoliosis (a curving of the spine to one side), which often requires surgical intervention for treatment.

Dysarthria (slowness and slurring of speech) develops and can get progressively worse. Many individuals with later stages of Friedreich’s ataxia develop hearing and vision loss.

Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich’s ataxia, such as hypertrophic cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common.

About 20 percent of people with Friedreich’s ataxia develop carbohydrate intolerance and 10 percent develop diabetes. Most individuals with Friedreich’s ataxia tire very easily and find that they require more rest and take a longer time to recover from common illnesses such as colds and flu.

The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals may become completely incapacitated.

Friedreich’s ataxia can shorten life expectancy, and heart disease is the most common cause of death. However, some people with less severe features of Friedreich’s ataxia live into their sixties, seventies, or older.

How is Friedreich’s ataxia diagnosed?
A diagnosis of Friedreich’s ataxia requires a careful clinical examination, which includes a medical history and a thorough physical exam, in particular looking for balance difficulty, loss of proprioception (joint sensation), absence of reflexes, and signs of neurological problems. Genetic testing now provides a conclusive diagnosis. Other tests that may aid in the diagnosis or management of the disorder include:

  • electromyogram (EMG), which measures the electrical activity of muscle cells,
  • nerve conduction studies, which measure the speed with which nerves transmit impulses,
  • electrocardiogram (ECG), which gives a graphic presentation of the electrical activity or beat pattern of the heart,
  • echocardiogram, which records the position and motion of the heart muscle,
  • blood tests to check for elevated glucose levels and vitamin E levels, and
  • magnetic resonance imaging (MRI) or computed tomography (CT) scans, tests which provide brain and spinal cord images that are useful for ruling out other neurological conditions.

How is Friedreich’s ataxia inherited?
Friedreich’s ataxia is an autosomal recessive disease, meaning individuals only develop symptoms if they inherit two copies of the defective FXN gene, one from their father and one from their mother. A person who has only one abnormal copy of the gene is called a carrier. A carrier will not develop the disease but could pass the gene mutation on to his or her children. If both parents are carriers, their children will have a 1 in 4 chance of having the disease and a 1 in 2 chance of inheriting one abnormal gene that they, in turn, could pass on to their children. About one in 90 Americans of European ancestry carries an abnormal FXN gene.

In 1996, an international research team identified the Friedreich’s ataxia gene on chromosome 9. The FXN gene codes for production of a protein called “frataxin.” In the normal version of the gene, a sequence of DNA (labeled “GAA”) is repeated between 7 and 22 times. In the defective FXN gene, the repeat occurs over and over again—hundreds, even up to a thousand times.

This abnormal pattern, called a triplet repeat expansion, has been implicated as the cause of several dominantly inherited diseases, but Friedreich’s ataxia is the only known recessive genetic disorder caused by the problem. Almost all people with Friedreich’s ataxia have two copies of this mutant form of FXN, but it is not found in all cases of the disease. About two percent of affected individuals have other defects in the FXN gene that are responsible for causing the disease.

The triplet repeat expansion greatly disrupts the normal production of frataxin. Frataxin is found in the energy-producing parts of the cell called mitochondria. Research suggests that without a normal level of frataxin, certain cells in the body (especially peripheral nerve, spinal cord, brain and heart muscle cells) cannot effectively produce energy and have been hypothesized to have a buildup of toxic byproducts leading to what is called “oxidative stress.” It also may lead to increased levels of iron in the mitochondria. When the excess iron reacts with oxygen, free radicals can be produced. Although free radicals are essential molecules in the body’s metabolism, they can also destroy cells and harm the body. Research continues on this subject (see section on “What research is being done?”).

Can Friedreich’s ataxia be cured or treated?
As with many degenerative diseases of the nervous system, there is currently no cure or effective treatment for Friedreich’s ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Doctors can prescribe treatments for diabetes, if present; 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 prolong use of the arms and legs. Advances in understanding the genetics of Friedreich’s ataxia are leading to breakthroughs in treatment. Research has moved forward to the point where clinical trials of proposed treatments are presently occurring for Friedreich’s ataxia.

What services are useful to Friedreich’s ataxia patients and their families?
Genetic testing is essential for proper clinical diagnosis, and can aid in prenatal diagnosis and determining a person’s carrier status. Genetic counselors can help explain how Friedreich’s ataxia is inherited. Psychological counseling and support groups for people with genetic diseases may also help affected individuals and their families cope with the disease.

A primary care physician can screen people for complications such as heart disease, diabetes and scoliosis, and can refer individuals to specialists such as cardiologists, physical therapists, and speech therapists to help deal with some of the other associated problems.

Support and information for families is also available through a number of private organizations. These groups can offer ways to network and communicate with others affected by Friedreich’s ataxia. They can also provide access to patient registries, clinical trials information, and other useful resources.

What research is being done?
Within the Federal government the National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), has primary responsibility for sponsoring research on neurological disorders. As part of this mission, the NINDS conducts research on Friedreich’s ataxia and other forms of inherited ataxias at its facilities at the NIH and supports additional studies at medical centers throughout the United States. Several nonprofit organizations also provide substantial support research (see the section on “Where can I get more information?”).

Researchers are optimistic that they have begun to understand the causes of the disease, and work has begun to develop effective treatments and prevention strategies for Friedreich’s ataxia. Scientists have been able to create various models of the disease in yeast and mice which have facilitated understanding the cause of the disease and are now being used for drug discovery and the development of novel treatments.

Studies have revealed that frataxin is an important mitochondrial protein for proper function of several organs. Yet in people with the disease, the amount of frataxin in affected cells is severely reduced. It is believed that the loss of frataxin makes the nervous system, heart, and pancreas particularly susceptible to damage from free radicals (produced when the excess iron reacts with oxygen). Once certain cells in these tissues are destroyed by free radicals they cannot be replaced. Nerve and muscle cells also have metabolic needs that may make them particularly vulnerable to this damage. Free radicals have been implicated in other degenerative diseases such as Parkinson’s and Alzheimer’s diseases.

Based upon this information, scientists and physicians have tried to reduce the levels of free radicals, also called oxidants, using treatment with “antioxidants.” Initial clinical studies in Europe suggested that antioxidants like coenzyme Q10, vitamin E, and idebenone may offer individuals some limited benefit. However, recent clinical trials in the United States and Europe have not revealed effectiveness of idebenone in people with Friedreich’s ataxia, but more powerful modified forms of this agent and other antioxidants are in trials at this time. There is also a clinical trial to examine the efficacy of selectively removing excess iron from the mitochondria.

Scientists also are exploring ways to increase frataxin levels through drug treatments, genetic engineering and protein delivery systems. Several compounds that are directed at increasing levels of frataxin may be brought to clinical trials in the near future. To check for current trials, visit http://www.clinicaltrials.gov. Additional information is available from the groups listed in the following section.

Armed with what they currently know about frataxin and Friedreich’s ataxia, scientists are working to better define fraxatin’s role, clarify how defects in iron metabolism may be involved in the disease process, and explore new therapeutic approaches for therapy.