Format

Send to

Choose Destination
See comment in PubMed Commons below

Ataxia with Oculomotor Apraxia Type 2.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Nov 15 [updated 2011 Dec 8].

Excerpt

CLINICAL CHARACTERISTICS:

Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age three and 30 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum concentration of alpha-fetoprotein (AFP).

DIAGNOSIS/TESTING:

The diagnosis of AOA2 is based on clinical and biochemical findings, family history, and exclusion of the diagnosis of ataxia-telangiectasia and AOA1. AOA2 is associated with pathogenic variants in SETX, the gene that encodes the protein senataxin.

MANAGEMENT:

Treatment of manifestations: Physical therapy for disabilities resulting from peripheral neuropathy; wheelchair for mobility as needed; educational support (e.g., computer with speech recognition and special keyboard for typing) to compensate for difficulties in reading (caused by oculomotor apraxia) and in writing (caused by upper-limb ataxia). Surveillance: Routine follow-up with a neurologist.

GENETIC COUNSELING:

AOA2 is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified.

Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Support Center