ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Friedreich ataxia
Print
Other Resources UpToDate PubMed

Friedreich ataxia

Print Images (1)
Contributors: Jamie Adams MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

Friedreich ataxia is an autosomal recessive disorder resulting from a GAA triplet repeat expansion in FXN, the frataxin gene. It is a progressive neurodegenerative disease that causes degeneration of the spinal cord and peripheral nerves. Onset of signs and symptoms is typically in childhood to teens, although up to a quarter of patients develop the disease after age 25. They include ataxia and difficulty walking, dysarthria, sensory loss (particularly proprioception and vibration), weakness, absent reflexes, high-arched feet, and hearing or vision problems. It is associated with heart disease, including cardiomyopathy or arrhythmias, diabetes, and scoliosis, which may lead to respiratory problems. It does not affect cognitive function. Life expectancy may be shortened, especially in cases with concomitant heart disease. The incidence in the United States and Europe is about 1 in 40 000.

For more information, see OMIM.

Codes

ICD10CM:
G11.1 – Early-onset cerebellar ataxia

SNOMEDCT:
10394003 – Friedreich's ataxia

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed: 08/14/2017
Last Updated: 08/15/2017
Copyright © 2019 VisualDx®. All rights reserved.
Friedreich ataxia
Print 1 Images
Friedreich ataxia : Areflexia, Ataxia, Position sense decreased, Vibratory sense decreased, Dysarthria, Muscle atrophy, Neuropathy peripheral, Optic disc atrophy, Cardiac dysrhythmia, Reflexes decreased
Copyright © 2019 VisualDx®. All rights reserved.