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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.

Lupus Awareness Month

Lupus is a chronic, autoimmune disease that can damage any part of the body (skin, joints, and/or organs inside the body). Chronic means that the signs and symptoms tend to last longer than six weeks and often for many years.

In lupus, something goes wrong with your immune system, which is the part of the body that fights off viruses, bacteria, and germs (“foreign invaders,” like the flu). Normally our immune system produces proteins called antibodies that protect the body from these invaders. Autoimmune means your immune system cannot tell the difference between these foreign invaders and your body’s healthy tissues (“auto” means “self”) and creates autoantibodies that attack and destroy healthy tissue. These autoantibodies cause inflammation, pain, and damage in various parts of the body.

Lupus is also a disease of flares (the symptoms worsen and you feel ill) and remissions (the symptoms improve and you feel better).

These are some additional facts about lupus that you should know:

  • Lupus is not contagious, not even through sexual contact. You cannot “catch” lupus from someone or “give” lupus to someone.
  • Lupus is not like or related to cancer. Cancer is a condition of malignant, abnormal tissues that grow rapidly and spread into surrounding tissues. Lupus is an autoimmune disease, as described above.
  • Lupus is not like or related to HIV (Human Immune Deficiency Virus) or AIDS (Acquired Immune Deficiency Syndrome). In HIV or AIDS the immune system is underactive; in lupus, the immune system is overactive.
  • Lupus can range from mild to life-threatening and should always be treated by a doctor. With good medical care, most people with lupus can lead a full life.
  • Our research estimates that at least 1.5 million Americans have lupus. The actual number may be higher; however, there have been no large-scale studies to show the actual number of people in the U.S. living with lupus.
  • More than 16,000 new cases of lupus are reported annually across the country.
  • It is believed that 5 million people throughout the world have a form of lupus.
  • Lupus strikes mostly women of childbearing age (15-44). However, men, children, and teenagers develop lupus, too.
  • Women of color are two to three times more likely to develop lupus than Caucasians.
  • People of all races and ethnic groups can develop lupus.

What are the common symptoms of lupus?
Because lupus can affect so many different organs, a wide range of symptoms can occur. These symptoms may come and go, and different symptoms may appear at different times during the course of the disease.

The most common symptoms of lupus, which are the same for females and males, are:

  • Extreme fatigue (tiredness)
  • Headaches
  • Painful or swollen joints
  • Fever
  • Anemia (low numbers of red blood cells or hemoglobin, or low total blood volume)
  • Swelling (edema) in feet, legs, hands, and/or around eyes
  • Pain in chest on deep breathing (pleurisy)
  • Butterfly-shaped rash across cheeks and nose
  • Sun- or light-sensitivity (photosensitivity)
  • Hair loss
  • Abnormal blood clotting
  • Fingers turning white and/or blue when cold (Raynaud’s phenomenon)
  • Mouth or nose ulcers

Many of these symptoms occur in other illnesses. In fact, lupus is sometimes called “the great imitator” because its symptoms are often like the symptoms of rheumatoid arthritis, blood disorders, fibromyalgia, diabetes, thyroid problems, Lyme disease, and a number of heart, lung, muscle, and bone diseases.

What To Consider When Shopping For A Wheelchair Accessible Vehicle

If you have a disAbility and don’t yet have an accessible vehicle, it’s difficult to know where to start. You’ve worked with your doctor and therapist, maybe even a certified driver rehabilitation specialist (CDRS), but they don’t know your budget, your preferred car or van, or where the nearest mobility dealer is.

Your medical team will help, of course, but you have homework to do:

Set a budget
How much can you afford to pay for a new or used wheelchair van? Figure in the down payment, monthly payment, insurance, gas and an estimate for yearly maintenance. Look for rebates, grants, loans, etc. to help reduce the price tag.

Research, research, research
Your doctor or therapist may recommend necessary adaptive equipment, but there may be other equipment you’d like. Check out the many options available now.

Testing, testing
If you can, test drive different vehicles at the mobility dealership to get the feel of spaciousness, ease or difficulty of loading, driving and parking, etc.

As you narrow the choices down, you might want to rent your top choice for a weekend or week-long trip. Time on the road will determine if the make and model are right for you.

Ask yourself these questions

  • Does it fit lengthwise and width-wide in my driveway or garage?
  • Is there space enough for the ramp or lift to deploy?
  • Can I easily reach and work all the controls?
  • If you plan to use a transfer seat- Is the seat comfortable? (Like your favorite chair at home—can you sit in it for hours and still be comfortable?)

There are many factors to consider that you may not have thought about until you test drive several candidates.

Find a mobility dealer
You will need to find an expert on wheelchair accessible vehicles and adaptive equipment. There are some things to consider when searching for the perfect mobility dealer to assist you.

  • Where are they located?
  • How experienced are they?
  • Do they offer a full-service shop?
  • How many vehicle options do they have available?

November Is Alzheimer’s Awareness Month

November Is Alzheimer's Awareness Month

Alzheimer’s is a type of dementia that causes problems with memory, thinking and behavior. Symptoms usually develop slowly and get worse over time, becoming severe enough to interfere with daily tasks.

Alzheimer’s and dementia basics

  • Alzheimer’s is the most common form of dementia, a general term for memory loss and other intellectual abilities serious enough to interfere with daily life. Alzheimer’s disease accounts for 60 to 80 percent of dementia cases.
  • Alzheimer’s is not a normal part of aging, although the greatest known risk factor is increasing age, and the majority of people with Alzheimer’s are 65 and older. But Alzheimer’s is not just a disease of old age. Up to 5 percent of people with the disease have early onset Alzheimer’s (also known as younger-onset), which often appears when someone is in their 40s or 50s.
  • Alzheimer’s worsens over time. Alzheimer’s is a progressive disease, where dementia symptoms gradually worsen over a number of years. In its early stages, memory loss is mild, but with late-stage Alzheimer’s, individuals lose the ability to carry on a conversation and respond to their environment. Alzheimer’s is the sixth leading cause of death in the United States. Those with Alzheimer’s live an average of eight years after their symptoms become noticeable to others, but survival can range from four to 20 years, depending on age and other health conditions.
  • Alzheimer’s has no current cure, but treatments for symptoms are available and research continues. Although current Alzheimer’s treatments cannot stop Alzheimer’s from progressing, they can temporarily slow the worsening of dementia symptoms and improve quality of life for those with Alzheimer’s and their caregivers. Today, there is a worldwide effort under way to find better ways to treat the disease, delay its onset, and prevent it from developing.

Symptoms of Alzheimer’s
The most common early symptom of Alzheimer’s is difficulty remembering newly learned information.

Just like the rest of our bodies, our brains change as we age . Most of us eventually notice some slowed thinking and occasional problems with remembering certain things. However, serious memory loss, confusion and other major changes in the way our minds work may be a sign that brain cells are failing.

The most common early symptom of Alzheimer’s is difficulty remembering newly learned information because Alzheimer’s changes typically begin in the part of the brain that affects learning. As Alzheimer’s advances through the brain it leads to increasingly severe symptoms, including disorientation, mood and behavior changes; deepening confusion about events, time and place; unfounded suspicions about family, friends and professional caregivers; more serious memory loss and behavior changes; and difficulty speaking, swallowing and walking.

People with memory loss or other possible signs of Alzheimer’s may find it hard to recognize they have a problem. Signs of dementia may be more obvious to family members or friends. Anyone experiencing dementia-like symptoms should see a doctor as soon as possible. If you need assistance finding a doctor with experience evaluating memory problems, your local Alzheimer’s Association chapter can help. Early diagnosis and intervention methods are improving dramatically, and treatment options and sources of support can improve quality of life.

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.

Spinal Cord Injury Information – Will You Stand For Those Who Can’t?

Spinal Cord Injury Facts & Statistics

Who Do Spinal Cord Injuries Affect in the United States?
  • 250,000 Americans are spinal cord injured.
  • 52% of spinal cord injured individuals are considered paraplegic and 47% quadriplegic.
  • Approximately 11,000 new injuries occur each year.
  • 82% are male.
  • 56% of injuries occur between the ages of 16 and 30.
  • The average age of spinal cord injured person is 31.
  • SCI injuries are most commonly caused by:
    • Vehicular accidents 37%
    • Violence 28%
    • Falls 21%
    • Sports-related 6%
    • Other 8%
  • The most rapidly increasing cause of injuries is due to violence; vehicular accident injuries are decreasing in number.
  • 89% of all SCI individuals are discharged from hospitals to a private home, 4.3% are discharged to nursing homes.
  • Only 52% of SCI individuals are covered by private health insurance at time of injury.

What Do Spinal Cord Injuries Really Cost?
  • Length of initial hospitalization following injury in acute care units: 15 days
  • Average stay in rehabilitation unit: 44 days
  • Initial hospitalization costs following injury: $140,000
  • Average first year expenses for a SCI injury (all groups): $198,000
  • First year expenses for paraplegics: $152,000
  • First year expenses for quadriplegics: $417,000
  • Average lifetime costs for paraplegics, age of injury 25: $428,000
  • Average lifetime costs for quadriplegics, age of injury 25: $1.35 million
  • Percentage of SCI individuals who are covered by private health insurance at time of injury 52%
  • Percentage of SCI individuals unemployed eight years after injury 63%. (Note: unemployment rate when this article was written was 4.7%)
 Source: The University of Alabama National Spinal Cord Injury Statistical Center – March 2002

Number of New Injuries Per Year
32 injuries per million population or 7800 injuries in the US each year

Most researchers feel that these numbers represent significant under- reporting. Injuries not recorded include cases where the patient instantaneously or soon after the injury, cases with little or no remaining neurological deficit, and people who have neurologic problems secondary to trauma, but are not classified as SCI. Researchers estimate that an additional 20 cases per million (4860 per year) die before reaching the hospital.

Total Number of People with SCI
  • 82% male, 18% female
  • Highest per capita rate of injury occurs between ages 16-30
  • Average age at injury – 33.4
  • Median age at injury – 26
  • Mode (most frequent) age at injury 19
  • Motor vehicle accidents are the leading cause of SCI (44%), followed by acts of violence (24%),falls (22%) and sports (8%), other (2%)
  • 2/3 of sports injuries are from diving
  • Falls overtake motor vehicles as leading cause after age 45
  • Acts of violence and sports cause less injuries as age increases
  • Acts of violence have overtaken falls as the second most common source of spinal cord injury
  • Marital status at injury:
    • Single 53%
    • Married 31%
    • Divorced 9%
    • Other 7%
  • 5 years post-injury:
    • 88% of single people with SCI were still single vs. 65% of the non-SCI population
    • 81% of married people with SCI were still married vs. 89% of the non-SCI population
  • Employment status among persons between 16 and 59 years of age at injury:
    • Employed 58.8%
    • Unemployed 41.2%
      (includes: students, retired, and homemakers)
  • Employed 8 years post-injury:
    • Paraplegic 34.4%
    • Quadriplegic 24.3%

People who return to work in the first year post-injury usually return to the same job for the same employer. People who return to work after the first year post-injury either worked for different employers or were students who found work.

How are spinal injuries caused?
Until the most recent figures were released by NSCIA in August, 1995, these were considered as the major causes of spinal cord injuries. See Answer to # 4 and Dr. Wise Youngís statistics in Section 2 for all the most recent demographics. One of the most surprising findings is that acts of violence have now overtaken falls as the second most common source of spinal cord injury,  as of the 1995 findings.

Previous To 1995:

  • Motor vehicles 48%
  • Falls 21%
  • Sports 14% (66% of which are caused in diving accidents)
  • Violence 15%
  • Other 2%

The Injury

Since 1988, 45% of all injuries have been complete, 55% incomplete. Complete injuries result in total loss of sensation and function below the injury level. Incomplete injuries result in partial loss. “Complete” does not necessarily mean the cord has been severed. Each of the above categories can occur in paraplegia and quadriplegia.

Except for the incomplete-Preserved motor (functional), no more than 0.9% fully recover, although all can improve from the initial diagnosis.

Overall, slightly more than 1/2 of all injuries result in quadriplegia. However, the proportion of quadriplegics increase markedly after age 45, comprising 2/3 of all injuries after age 60 and 87% of all injuries after age 75.

92% of all sports injuries result in quadriplegia.

Most people with neurologically complete lesions above C-3 die before receiving medical treatment. Those who survive are usually dependent on mechanical respirators to breathe.

50% of all cases have other injuries associated with the spinal cord injury.

Most Frequent Neurological Category
Quadriplegia, incomplete 31.2%
Paraplegia, complete 28.2%
Paraplegia, incomplete 23.1%
Quadriplegia, complete 17.5%

 

Hospitalization
(Important: This section applies only to individuals who were admitted to one of the hospitals designated as “Model” SCI centers by the National Institute of Disability and Rehabilitation Research.)

Over 37% of all cases admitted to the Spinal Cord Injury System sponsored by the NIDRR arrive within 24 hours of injury. The mean time between injury and admission is 6 days.

Only 10-15% of all people with injuries are admitted to the NIDRR SCI system. The remainder go to CARF facilities or to general hospitals in their local community.

It is now known that the length of stay and hospital charges for acute care and initial rehabilitation are higher for cases where admission to the SCI system is delayed beyond 24 hours. Average length of stay (1992):
Quadriplegics 95 days
Paraplegics 67 days
All 79 days

Average charges (1990 dollars) Note: Specific cases are considerably higher.
Quadriplegics $118,900
Paraplegics $ 85,100
All $ 99,553

Source of payment acute care:
Private Insurance 53%
Medicaid 25%
Self-pay 1%
Vocational Rehab 14%
Worker’s Comp 12%
Medicare 5%
Other 2%

Ongoing medical care: (Many people have more than one source of payment.)
Private Insurance 43%
Medicare 25%
Self-pay 2%
Medicaid 31%
Worker’s Compensation 11%
Vocational Rehab 16%

After the Hospital
Residence at discharge
Private Residence 92%
Nursing Home 4%
Other Hospital 2%
Group Home 2%

There is no apparent relationship between severity of injury and nursing home admission, indicating that admission is caused by other factors (i.e. family can’t take care of person, medical complications, etc.) Nursing home admission is more common among elderly persons.

Each year 1/3 to 1/2 of all people with SCI are re-admitted to the hospital. There is no difference in the rate of re-admissions between persons with paraplegia and quadriplegia, but there is a difference between the rate for those with complete and incomplete injuries.


Survival
Overall, 85% of SCI patients who survive the first 24 hours are still alive 10 years later, compared with 98% of the non-SCI population given similar age and sex.

Causes of Death
The most common cause of death is respiratory ailment, whereas, in the past it was renal failure. An increasing number of people with SCI are dying of unrelated causes such as cancer or cardiovascular disease, similar to that of the general population. Mortality rates are significantly higher during the first year after injury than during subsequent years.

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Every 48 minutes someone in the U.S. is paralyzed from a spinal cord injury.  Millions worldwide are living with paralysis as a result and living with the knowledge that there is currently no cure for their injury.

In an effort to raise awareness about the critical need for better treatments and preventive measures, September has been designated National Spinal Cord Injury Awareness Month by the U.S. Senate, the result of a resolution co-sponsored by Sens. Marco Rubio (R-FL) and Bill Nelson (D-FL).  To bolster the resolution’s message, we are launching an awareness campaign lasting the entire month of September.

The goal of the campaign is to ask “Will You Stand Up For Those Who Can’t?”  The intent is to create a national conversation about the devastation of paralysis, and to bring this condition to the forefront of public awareness.

“Paralysis does not discriminate.  People need to realize that paralysis can happen to anyone at any time,” said Nick Buoniconti.  “But the reality of today’s statistics can’t be disputed.  Every 48 minutes another person in the U.S. will become paralyzed. That is simply unacceptable. Each of us must do what we can to make a difference.  I am personally asking you, will you stand up for those who can’t and do one or more of the following?”

We are asking our friends and supporters to:

Make a donation in honor of a loved one, caregiver, scientist or organization who is working to improve the life of those injured.  If you would like to host a small fundraising party at your house, please email bfinfo@med.miami.edu and we will send you more information.

“The inspiring work of The Miami Project to Cure Paralysis has touched the lives of millions of young athletes, accident victims and troops in harm’s way and I commend them for it,” said Sen. Rubio. “By designating September as National Spinal Cord Injury Awareness Month, I hope we can further educate the public about how crippling accidents can be prevented while promoting the important work being done to help victims walk again.”