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 ... 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

• Difficulty walking
• Foot deformities
• Clubfoot
• Toe flexion (involuntary bending)
• Loss of knee reflex
• more symptoms...»

See full list of 16 symptoms of Friedreich's ataxia

Home Diagnostic Testing

Home medical testing related to Friedreich's ataxia:

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Friedreich's ataxia: Complications

Review possible medical complications related to Friedreich's ataxia:

• Heart disease
• Scoliosis
• Difficulty breathing - from severe scoliosis.
• Wheelchair-bound
• more complications...»

Medical Textbooks Online about Friedreich's ataxia

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Diagnostic Tests for Friedreich's ataxia

• Physical exam
• Electromyogram (EMG)
• Genetic testing
• more tests...»

Read more about tests for Friedreich's ataxia

Wrongly Diagnosed with Friedreich's ataxia?

• Misdiagnosis of Friedreich's ataxia
• Failure to diagnose Friedreich's ataxia
• Undiagnosed: Friedreich's ataxia

Friedreich's ataxia: Self Assessment Tools

• Stroke -- Self Assessment Tools
• more tools...»

Friedreich's ataxia: Marketplace Products, Discounts & Offers

Products, offers and promotion categories available for Friedreich's ataxia:

• Stroke
• Brain
• more product offers...»

Friedreich's ataxia: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

• Brain & Neurological Disorders: Undiagnosed:
  • Adult ADHD -- Undiagnosed - ADHD can be undiagnosed in adults.
  • ADHD -- Undiagnosed
  • Alzheimer Disease -- Undiagnosed
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  • Concentration Disorders -- Undiagnosed
  • Stroke -- Undiagnosed
  • Bipolar Disorder -- Undiagnosed
  • Schizophrenia -- Undiagnosed
  • Epilepsy -- Undiagnosed
• more undiagnosed conditions...»

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...read 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...read 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 concussion diagnosis. The condition goes by the...read 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...read 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...read 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 post...read 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...read 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)....read more »

Read more about Misdiagnosis and Friedreich's ataxia

Friedreich's ataxia: Research Doctors & Specialists

Research related physicians and medical specialists:

• Nerve Specialists:
  • Neuromusculoskeletal Medicine
  • Neurology (Brain/CNS Specialists)
  • Pediatric Neurology (Child Brain Specialist)
  • Spinal Cord Injury Medicine
• Neurology (Brain/CNS Specialists):
  • Pediatric Neurosurgery (Child Neurosurgeon)
  • Clinical Neurophysiology
  • Neurodevelopment Disabilities
  • Neurosurgery (Brain Surgery)
  • Neuromusculoskeletal Medicine (Nerve/Muscle/Bone Specialists)
  • Neuroradiology
  • Vascular Neurology
  • Neuropathology
  • Otology / Neurotology (Ear/Hearing Specialists)
• Stroke & Vascular Specialists:
  • Vascular Neurology (Brain Blood Vessels)
  • Vascular & Interventional Radiology
  • Vascular Surgery (Blood Vessel Surgeon)
  • Neuropathology (Brain Diagnostics)
• more specialists...»

Other doctor, physician and specialist research services:

• Rate Your Doctor Online
• Research Your Doctor Online
• Review Patient Surveys About Your Doctor
• Research local specialists including ratings, affiliations, and sanctions.

Friedreich's ataxia: Rare Types

Rare types of diseases and disorders in related medical categories:

• Brain & Neurological Disorders: Rare Types:
  • Adult ADHD -- Rare Types
  • ADHD -- Rare Types
  • Alzheimer Disease -- Rare Types
  • Migraine -- Rare Types
  • Concentration Disorders -- Rare Types
  • Stroke -- Rare Types
  • Bipolar Disorder -- Rare Types
  • Schizophrenia -- Rare Types
  • Epilepsy -- Rare Types
• more rare diseases...»

Causes of Friedreich's ataxia

Read more about causes of Friedreich's ataxia.

Treatments for Friedreich's ataxia

• Symptomatic and supportive
• Medications - for heart problems
• Physical therapy
• Braces
• Surgery - for orthopedic problems
• more treatments...»

Read more about treatments for Friedreich's ataxia

Evidence Based Medicine Research for Friedreich's ataxia

Medical research articles related to Friedreich's ataxia include:

• Differential diagnosis of chest pain.
• How do you convert an oral pyridostigmine dose to a parenteral neostigmine dose?
• Idebenone (SNT-MC17) Friedreich's ataxia
• Idebenone
• Frataxin
• more research...»

Click here to find more evidence-based articles on the TRIP Database

Videos for Friedreich's ataxia

Patient Surveys for Friedreich's ataxia

• Patient Profile Survey
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• Survey about the symptoms of your Friedreich's ataxia
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Prognosis for Friedreich's ataxia

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

More about prognosis of Friedreich's ataxia

Reseach about Friedreich's ataxia

Visit our research pages for current research about Friedreich's ataxia treatments.

Friedreich's ataxia: Broader Related Topics

• Brain conditions
• Triplet Repeat Genetic Disorders
• Spinal Cord Disorders
• more types...»

Types of Friedreich's ataxia

Stories from Users Related to Friedreich's ataxia

• Question about Ataxia
• Patient with ataxia...

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User Interactive Forums

Read about other experiences, ask a question about Friedreich's ataxia, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

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)