Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 
Diseases » Friedreich's ataxia » Summary
 

What is Friedreich's ataxia?

What is Friedreich's ataxia?

  • Friedreich's ataxia: Progressive muscle weakness from nerve damage.
  • 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
  • Friedreich's ataxia: 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)

Friedreich's ataxia: Introduction

Types of Friedreich's ataxia:

Broader types of Friedreich's ataxia:

Who gets Friedreich's ataxia?

Patient Profile for Friedreich's ataxia: Usually 5-15 when symptoms appear, but can be delayed till 30.

Profile for Friedreich's ataxia: FRDA is generally diagnosed in childhood and affects both males and females. (Source: Genes and Disease by the National Center for Biotechnology)

How serious is Friedreich's ataxia?

Prognosis of Friedreich's ataxia: Usually wheelchair within 15-20 years. Early death if heart problems.
Complications of Friedreich's ataxia: see complications of Friedreich's ataxia
Prognosis of Friedreich's ataxia: Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals become completely incapacitated. Most people with Friedreich's ataxia die in early adulthood if there is significant heart disease, the most common cause of death. Some people with less severe symptoms live much longer. (Source: excerpt from NINDS Friedreich's Ataxia Information Page: NINDS)

What causes Friedreich's ataxia?

Causes of Friedreich's ataxia: see causes of Friedreich's ataxia

What are the symptoms of Friedreich's ataxia?

Symptoms of Friedreich's ataxia: see symptoms of Friedreich's ataxia

Complications of Friedreich's ataxia: see complications of Friedreich's ataxia

Can anyone else get Friedreich's ataxia?

Inheritance: see inheritance of Friedreich's ataxia

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Friedreich's ataxia: Testing

Diagnostic testing: see tests for Friedreich's ataxia.

Misdiagnosis: see misdiagnosis and Friedreich's ataxia.

How is it treated?

Doctors and Medical Specialists for Friedreich's ataxia: Medical Geneticist ; see also doctors and medical specialists for Friedreich's ataxia.
Treatments for Friedreich's ataxia: see treatments for Friedreich's ataxia
Research for Friedreich's ataxia: see research for Friedreich's ataxia

Organs Affected by Friedreich's ataxia:

Organs and body systems related to Friedreich's ataxia include:

Name and Aliases of Friedreich's ataxia

Main name of condition: Friedreich's ataxia

Class of Condition for Friedreich's ataxia: genetic repeating triplet

Other names or spellings for Friedreich's ataxia:

FRDA

Friedreich's ataxia, Herediatry spinal ataxia
Source - WordNet 2.1

Friedreich ataxia
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Friedreich's ataxia: Related Conditions

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

  • inherited ataxia
  • Hereditary ataxia
  • Progressive limb and gait ataxia
  • Dysarthria
  • Loss of joint position and vibration senses
  • Absent tendon reflexes in the legs
 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise