I was diagnosed when I was 18, and at that time I was told that life expectancy was 21. The doctors really did not understand Friedreich's Ataxia and there was no DNA test to verify the accuracy of the neurologist diagnosis. My clinical diagnosis was in 1987. This was prior to the internet, so information on this disease was rare and hard to find.  It was many years later that with a proper DNA test verified that the initial diagnosis was correct.

One of my first jobs out of college was with a company that was a pioneer with information and using the internet. Since then I have spent hours on the internet looking for information about Friedreich's Ataxia. Here is some basic information that I have found and is available from several sources.

What is it?
Friedreich’s Ataxia is a rare but severe neuromuscular disease that results in the degeneration of an individual’s nerve and muscle tissue. It was first described in 1863 by Nikolaus Friedreich, a german physician. It is characterised by problems with balance, coordination and commonly slurring of speech.

The inheritance is autosomal recessive. Disease symptoms may include any of the following:
• Muscle weakness and loss of coordination (ataxia) in the arms and legs
• Vision impairment, hearing loss, and slurred speech
• Aggressive scoliosis (curvature of the spine)
• Serious heart changes (enlarged heart – hypertrophic cardiomyopathy).

The prevalence is 1/50,000 in Caucasian populations. It is rare in sub-Saharan Africans and does not exist in the Far East. It affects both males and females equally. Based on published epidemiologic studies, an estimated 20,000 people suffer from the disease in Europe and North America. Average life expectancy for people with Friedreich’s Ataxia is limited to approximately 35 to 50 years. The chronic disorder requires lifelong treatment.

Causes
Friedreich’s Ataxia is an inherited disease causing mutations in the gene encoding protein frataxin. This protein is essential for the proper functioning of the mitochondria (the energy production centers of a cell). Insufficient levels of frataxin negatively impact nerve and muscle tissues, as these cells are particularly energy demanding.

Diagnosis
Doctors usually diagnose Friedreich’s Ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination. Tests that may be performed include an electromyogram (EMG), nerve conduction studies, an electrocardiogram (EKG), an echocardiogram as well as genetic testing to identify the affected gene. Genetic testing is carried out in certain specialized laboratories and can provide information to assist with clinical diagnosis and carrier status determination. DNA testing is also used to diagnose individuals with FA.

Symptoms
• Gait problems (usually the presenting symptom, slow and clumsy walking, difficulty standing and running)
• Difficulty writing
• Difficulty performing activities of daily living
• Slurred speech
• Swallowing problems
• Hearing problems
• Visual disturbance

Signs
• In coordination of limb movements (both lower limbs are usually affected equally and first with arms later)
• Ataxic gait - both sensory ataxia (loss of joint position sense results in a steppage gait where there is uneven and irregular striking of the floor by the bottom of the feet) and cerebellar ataxia (wide based gait). There is difficulty turning.
• Dysarthria - speech is slurred and slow
• Nystagmus
• Reduced or absent tendon reflexes
• Positive Babinski sign (extensor plantar responses)
• Impairment of joint position sense
• Impairment of vibration sense
• Sensory neuropathy
• Action and intention tremors can develop as the disease progresses
• Progressive motor weakness of the lower limbs occurs, leading to inability to walk. Arm weakness occurs in advanced disease. Ataxic head movements (titubation) can occur in advanced disease.
• Dysphagia
• Reduced visual acuity
• Deafness
• Cognitive dysfunction
• Emotional lability
• Chorea occurs rarely

Prognosis
As the disease progresses, people suffer increasingly severe symptoms such as loss of motor coordination, fatigue, slurred speech, hearing and visual impairment; and spinal deformation. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages patients become completely incapacitated. Life expectancy may be affected, particularly in patients who develop cardiomyopathy, a cardiac complication that is frequently associated with Friedreich’s Ataxia.

Treatment
Current treatments are focused on support therapies, such as walking aids, wheelchairs, physical and speech therapy, and corrective surgery, as well as psychological support. At present, there are no specifically developed and approved pharmacological therapies available for the treatment of Friedreich’s Ataxia in the US or Europe.

Catena ® (idebenone): Mode of Action
Catena® (idebenone) is a small molecule optimized to improve the electron transport chain in mitochondria, the energy producing cells factories. Specifically, Catena® is believed to facilitate the transport of electrons within mitochondria, helping maintain correct electron balance, which is necessary for the production of cellular energy. Nerve and muscle cells, including heart muscle cells, are particularly energy-demanding and are, therefore, more prone to rapid cell damage or death due to mitochondrial dysfunction. Through preserving mitochondrial function and protecting cells from oxidative stress, it is believed that Catena® can prevent cell damage and increase the production of energy within impaired cells of people with Friedreich’s Ataxia.

Prognosis
Prognosis is generally poor. Heart disease and diabetes, if severe, can lead to significant respiratory problems and death. Cardiomyopathy can lead to cardiac arrhythmias, cardiac failure and death. Inability to walk typically occurs by 15 years after diagnosis. > 95% are wheelchair bound by age 45 years.
Some people have survived into their 50s and 60s but usually patients die at 25-30 years old.

Inheriting Friedreich's Ataxia
Friedreich's ataxia is inherited recessively; that is, a person develops the disorder only when he or she inherits genes from both parents. About 1 in 90 people of European ancestry carry the FRDA gene and most of them do not know it. There is a higher incidence of FRDA in the French / Acadian population of south Louisiana. In 1996, an international group of scientists — with cooperation and support from patients, patient families, and their physicians — identified the gene, cloned it, and decoded its sequence. The gene (called X25) was found on the 9th chromosome and carries the instructions for making a protein that was not previously known. The protein was named after the disorder and is called frataxin.

Probably the most descriptive article on FA is located on the MDAUSA website. http://www.mda.org/publications/fa-fried-qa.html

 

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