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Friedreich's ataxia

Friedreich's ataxia: Introduction

Friedreich's ataxia: Friedreich's ataxia (FRDA) is a rare inherited disease characterized by the progressive loss of voluntary muscular coordination (ataxia) and heart enlargement. It is named ... more about Friedreich's ataxia.

Friedreich's ataxia: Progressive muscle weakness from nerve damage. More detailed information about the symptoms, causes, and treatments of Friedreich's ataxia is available below.

Symptoms of Friedreich's ataxia

Treatments for Friedreich's ataxia

Home Diagnostic Testing

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Wrongly Diagnosed with Friedreich's ataxia?

Friedreich's ataxia: Related Patient Stories

Diagnostic Tests for Friedreich's ataxia

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Friedreich's ataxia: Complications

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Causes of Friedreich's ataxia

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Disease Topics Related To Friedreich's ataxia

Research the causes of these diseases that are similar to, or related to, Friedreich's ataxia:

Friedreich's ataxia: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Friedreich's ataxia

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to speak. This was more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or Alzheimer's disease, more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even those causing a mild more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain injury (MTBI), more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be misdiagnosed as Parkinson's disease or dementia ( more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can occur in more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children. See more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See more »

Friedreich's ataxia: Research Doctors & Specialists

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Friedreich's ataxia: Rare Types

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Evidence Based Medicine Research for Friedreich's ataxia

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Friedreich's ataxia: Animations

Prognosis for Friedreich's ataxia

Prognosis for Friedreich's ataxia: Usually wheelchair within 15-20 years. Early death if heart problems.

Research about Friedreich's ataxia

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Statistics for Friedreich's ataxia

Friedreich's ataxia: Broader Related Topics

Friedreich's ataxia Message Boards

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Article Excerpts about Friedreich's ataxia

Genes and Disease by the National Center for Biotechnology (Excerpt)

Friedreich's ataxia (FRDA) is a rare inherited disease characterized by the progressive loss of voluntary muscular coordination (ataxia) and heart enlargement. It is named after the German doctor, Nikolaus Friedreich, who first described the disease in 1863. FRDA is generally diagnosed in childhood and affects both males and females. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Friedreich's Ataxia Information Page: NINDS (Excerpt)

Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. Ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. (Source: excerpt from NINDS Friedreich's Ataxia Information Page: NINDS)

Definitions of Friedreich's ataxia:

An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75) - (Source - Diseases Database)

Sclerosis of the posterior and lateral columns of the spinal cord; characterized by muscular weakness and abnormal gait; occurs in children - (Source - WordNet 2.1)

Friedreich's ataxia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Friedreich's ataxia, or a subtype of Friedreich's ataxia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)


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