title: 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.affiliation: Program in Physical Therapy, The George Washington University, 900 23rd St, NW, #6140, Washington, DC 20037, USA. hspjxm@gwumc.edu
authors.forename: Joyce R
authors.initials: JR
authors.lastname: Maring
authors.forename: Earllaine
authors.initials: E
authors.lastname: Croarkin
mesh_terms: D003937:Diagnosis, Differential; D018450:Disease Progression; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000534:rehabilitation*; D006801:Humans; D026741:Physical Therapy Modalities; D011379:Prognosis