Friedreich’s Ataxia

Ataxia is a symptom of coordination problems such as clumsy or awkward movements and unsteadiness which occurs in many different diseases and conditions. Friedreich’s ataxia is a rare inherited form of the disease affecting about 1 in 50,000 people in the United States, which causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease. Friedreich’s ataxia results from the degeneration of nerve tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath (the insular covering on some nerve cells that helps conduct nerve impulses).

FA patients have gene mutations that limit the production of a protein called frataxin. Frataxin is known to be an important protein that functions in the mitochondria (the energy producing factories) of the cell. Frataxin helps to move iron and is involved with the formation of iron-sulfur clusters, which are necessary components in the function of the mitochondria and thus energy production. We also know that specific nerve cells (neurons) degenerate in people with FA, and this is directly manifested in the symptoms of the disease.

I DO ALL MY OWN STUNTS

James is a 25 year old with Friedreich’s Ataxia – a degenerative neurological disease, the symptoms of which did not become obvious for the first 20 years of his life. In this film – made by James and Black Rat Films – we get to know James and see how he and his family have reacted to his condition.

SIGNS/SYMPTOMS
Onset of symptoms can vary from childhood to adulthood. Childhood onset of FA is usually between the ages of 5 and 15 and tends to be associated with a more rapid progression. Late onset FA (LOFA) can occur anytime during
adulthood.

  • Cerebellar: Nystagmus, fast saccadic eye movements, truncal titubation, dysarthria, dysmetria.
  • Pyramidal: absent deep tendon reflexes, extensor plantar responses, and distal weakness are commonly found.
  • Dorsal column: Loss of vibratory and proprioceptive sensation occurs.
  • Cardiac involvement occurs in 91% of patients, including cardiomegaly (up to dilated cardiomyopathy), symmetrical hypertrophy, murmurs, and conduction defects. Median age of death is 35 years, while females have better prognosis with a 20-year survival of 100% as compared to 63% in men.

About 20% of people with Friedreich’s ataxia develop carbohydrate intolerance and/or pancreatic β cell dysfunction, 10-20% percent develop diabetes.

Intro to Friedreich’s Ataxia & Friedreich’s Ataxia Research Alliance (FARA)

CureFA

TREATMENT
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 patients maintain optimal functioning as long as possible. Diabetes, if present, can be treated with diet and medications such as insulin, and some of the heart problems can be treated with medication as well. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs. Scientists hope that recent advances in understanding the genetics of Friedreich’s ataxia may lead to breakthroughs in treatment.

National Institute of Neurological Disorders and Stroke (FA FACT SHEET)

As a result of great advancements to understand the cause of the disease, new treatments are now emerging. These treatments address the causes of FA such as gene mutation, frataxin production, iron sulfur clusters, and mitochondrial function. A full listing of treatment initiatives can be viewed in FARA’s treatment pipeline. Several of these treatments will be in clinical trials which require patient participation.

9-frda

Photo courtesy of Dimitri Agamanolis, MD @ Akron Children’s Hospital
http://neuropathology.neoucom.edu/chapter9/chapter9hAtaxia.html
Friedreich’s Ataxia: Spinal Cord, myelin strain. Degeneration of the posterior columns, spinocerebellar, corticospinal, and other tracts. Notice atrophy of dorsal roots. The patient had also cardiomyopathy and pes cavus.

National Ataxia Foundation (NAF)
Muscular Dystrophy Association
Genetic Alliance
National Society of Genetic Counselors

In Local News (Bakersfield, CA):

Rare Disorder Can’t Keep Local Man Down

Notable Tweets:

@jeremyobryan Sitting on the sofa, learning about Friedreich’s Ataxia, the illness featured in the movie Cake Eaters. For more on Friedreich’s Ataxia, surf to http://www.carefa.org.

Cake Eaters Trailer NOTE: RATED R

@Alyssa_Milano RT @ralphysfelices Pls RT Friedreich’s Ataxia needs a cure http://bit.ly/FJTpl Help save our girly http://twitpic.com/4czf1 @jeremyobryan This is the 7 year old face of Friedreich’s Ataxia..my girly girl… http://twitpic.com/4ivsh

@kgoecke Don’t miss some upcoming race/walks. Support Hannah who has Cystic Fibrosis and Evan who has Friedreich’s Ataxia. Info on www.MasonMetu.com.

@eirelady56 Rare disease called Friedreich’s Ataxia. See curefa.org. $$$ needed for research. Too many kids have died. Pls check site 4 info & pls help.

@ALLeukemiaChild Complex I and ATP content deficiency in lymphocytes from Friedreich’s ataxia. – http://bit.ly/LRmAv

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~ by marbleroad on May 4, 2009.

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