Presentation and progression of Friedreich ataxia and implications for physical therapist examination.

Abstract

Friedreich ataxia, although rare, is the most prevalent inherited ataxia. Recent insight into the disease pathogenesis is creating new hope for effective therapies. The purposes of this update are: (1) to review the etiology, presentation, and progression of Friedreich ataxia and (2) to describe a comprehensive physical therapist examination emphasizing valid and reliable performance measurements associated with disease progression. Early identification of individuals with Friedreich ataxia and precise characterization of impairments and functional limitations gain importance as new drug therapies are considered.

• Authors: Joyce R Maring, Earllaine Croarkin
• Journal: Physical therapy (Phys Ther) Vol. 87 Issue 12 Pg. 1687-96 (Dec 2007) ISSN: 0031-9023 [Print] United States
• PMID: 17911272 (Publication Type: Journal Article, Review)

Topics

• Diagnosis, Differential
• Disease Progression
• Friedreich Ataxia (diagnosis, rehabilitation)
• Humans
• Physical Therapy Modalities
• Prognosis