bannerHON
img
HONselect
HONselect
img PATIENT / INDIVIDUAL img MEDICAL PROFESSIONAL img WEB PUBLISHER img
img
 
img
HONcode sites
Khresmoi - new !
HONselect
News
Conferences
Images
  HONselect Search
- English - French - German - Spanish - Portuguese - Italian - Dutch   

  Hierarchy 
- English - French - German - Spanish - Portuguese - Italian - Dutch   

Friedreich Ataxia
Definition: 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)

Synonym(s): Friedreich Disease / Hereditary Spinal Sclerosis / Sclerosis, Hereditary Spinal / Freidreich's Ataxia / Friedreich Familial Ataxia / Friedreich Hereditary Ataxia / Friedreich Hereditary Spinal Ataxia / Friedreich Spinocerebellar Ataxia / Friedreich's Ataxia / Friedreich's Disease / Friedreich's Familial Ataxia / Friedreich's Hereditary Ataxia / Friedreich's Hereditary Spinal Ataxia / Hereditary Spinal Ataxia, Friedreich / Hereditary Spinal Ataxia, Friedreich's / Ataxia, Freidreich's / Ataxia, Friedreich / Ataxia, Friedreich Familial / Ataxia, Friedreich Hereditary / Ataxia, Friedreich Spinocerebellar / Ataxia, Friedreich's / Ataxia, Friedreich's Familial / Ataxia, Friedreich's Hereditary / Ataxias, Friedreich / Ataxias, Friedreich's Hereditary / Disease, Friedreich / Disease, Friedreich's / Familial Ataxia, Friedreich / Familial Ataxia, Friedreich's / Friedreich Ataxias / Friedreich's Hereditary Ataxias / Friedreichs Familial Ataxia / Hereditary Ataxia, Friedreich / Hereditary Ataxia, Friedreich's / Hereditary Ataxias, Friedreich's / Hereditary Spinal Scleroses / Scleroses, Hereditary Spinal / Spinal Scleroses, Hereditary / Spinal Sclerosis, Hereditary / Spinocerebellar Ataxia, Friedreich
MeSH 2010 © U.S. National Library of Medicine®.
Browse - New search   

  More information from the Genetics Home Reference Website
What is Friedreich ataxia?
Friedreich ataxia is a genetic condition that damages nerve tissue, causing a loss of muscle coordination (ataxia) that worsens over time. Other characteristics of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity) in the limbs, and impaired speech. Friedreich ataxia may also affect heart function.
Typically, signs and symptoms of Friedreich ataxia first appear in childhood or the early teens. Poor balance when walking and slurred speech are often the initial symptoms. About 25 percent of cases, ...

How common is Friedreich ataxia?
Friedreich ataxia is estimated to affect 1 in 40,000 people.


More information from the Genetics Home Reference Website
Browse - New search   

  Web resources for "Friedreich Ataxia"
  English (16)  French (8)  German (1)  Spanish (5)    Italian (3)  

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the HON description of the site HONcode - Orphanet Journal of Rare Diseases | Full text | Autosomal recessive cerebellar ataxiaswww.ojrd.com  
view the HON description of the site HONcode - Friedreich ataxia - Genetics Home Referenceghr.nlm.nih.gov 3
view the HON description of the site HONcode - Friedreich ataxiawww.virtualneurocentre.com  
view the HON description of the site HONcode - Friedreich's Ataxia Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 4
view the HON description of the site HONcode - Friedreich's Ataxia: MedlinePluswww.nlm.nih.gov 2
view the HON description of the site HONcode - Friedreich's ataxia Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com  
view the HON description of the site HONcode - Orphanet: Friedreich ataxiawww.orpha.net 9
view the HON description of the site HONcode - Whonamedit - Friedreich's disease Iwww.whonamedit.com 3
view the HON description of the site HONcode - Friedreich's ataxiawww.healthcentral.com  
view the HON description of the site HONcode - Friedreich's Ataxia | MDAwww.mdausa.org  
next results
 

Broader term(s): - Spinocerebellar Degenerations - Cerebellar Diseases - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Mitochondrial Diseases - Metabolic Diseases - Nutritional and Metabolic Diseases

Browse - New search   

  Medical image(s) for "Friedreich Ataxia"
No results for this term. Browse other medical images in HONmedia?
Broader term(s): - Brain Diseases
Browse - New search   

  Medical News for "Friedreich Ataxia"
No results for this term. More health news

Broader term(s): - Nervous System Diseases

Browse - New search   

  Scientific articles from MEDLINE for "Friedreich Ataxia"
  - English - French - German - Spanish - Portuguese - Italian - Dutch   
 All recent articles
 Therapy:  by recall    by precision
 Diagnosis:  by recall    by precision
 Etiology:  by recall    by precision
 Prognosis:  by recall    by precision

Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

Browse - New search   

  Clinical Trials for "Friedreich Ataxia"
ClinicalTrials.gov - Linking patients to medical research

 More results

Broader term(s): - Spinocerebellar Degenerations - Cerebellar Diseases - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Mitochondrial Diseases - Metabolic Diseases

Browse - New search   

  Medical Conferences/Events for "Friedreich Ataxia"
No results for this term. Consult HON's world-wide database of medical meetings
Browse - New search   

   Refine the search for  "Friedreich Ataxia"

Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Mitochondrial Diseases 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Heredodegenerative Disorders, Nervous System
                      Spinocerebellar Degenerations 
      Diseases
          Nervous System Diseases
              Neurodegenerative Diseases
                  Heredodegenerative Disorders, Nervous System
                      Spinocerebellar Degenerations 
              Central Nervous System Diseases
                  Spinal Cord Diseases
                      Spinocerebellar Degenerations 
                  Brain Diseases
                      Cerebellar Diseases
                          Spinocerebellar Degenerations 

MeSH 2010 © U.S. National Library of Medicine®.

Browse - New search   



Most frequently used terms List of Rare Disease Add HONselect Extract MeSH
Home img About us img MediaCorner img HON newsletter img Site map img Ethical policies img Contact