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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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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

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Friedreich's ataxia: Undiagnosed Conditions

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Misdiagnosis and Friedreich's ataxia

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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

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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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