Changes in Patient Outcomes after Evaluation at a Tertiary Dedicated Ataxia Clinic
Audrey Blazek Ramsay1, Elizabeth Coon1, Filippo Pinto e Vairo1, Lauren Jackson1
1Mayo Clinic
Objective:
To explore final diagnoses and resultant changes in patient outcomes after evaluation at a tertiary care center dedicated ataxia clinic.
Background:
Ataxia can manifest in a variety of underlying neurologic etiologies, including hereditary, degenerative, autoimmune, structural, and toxic-metabolic. Heterogenous presentations of the same disorder can make misdiagnosis common. Evaluation in a dedicated ataxia clinic allows for a specialized, multi-faceted diagnostic approach, including genetic testing.
Design/Methods:
We reviewed patients evaluated in the first three years of our ataxia clinic. Demographics and clinical characteristics, including diagnostic testing, treatment, and management, were recorded.
Results:
One hundred and ninety patients were seen during the clinic’s first 3 years. Fifty-eight patients (30.5%) were found to have a genetic etiology of ataxia, with 38 (65.5%) of these previously undiagnosed. This resulted in 27 patients (46.6%) having a change in outcome, such as discontinuation of unneeded treatment, initiation of targeted symptomatic therapy, and screening for associated conditions (i.e. cardiac). The most common genetic diagnoses were SCA27B (n=18), CANVAS (n=10), SCA8 (n=6), Friedreich ataxia (n=3), and SPG7 (n=3).
Out of 41 patients with degenerative causes, 15 experienced a change in outcome with their diagnosis, including discontinuation of unneeded treatment, initiation of symptomatic treatment (i.e. carbidopa-levodopa), and clinical trial enrollment. Out of 12 patients with autoimmune causes, 9 were initiated on treatment due to their new diagnosis. Out of 49 patients with acquired or functional causes, 16 were treated for vitamin deficiencies, referred for consideration of spinal surgery, or referred for physical rehabilitation or vestibular therapy. Forty-two patients remained undiagnosed.
Conclusions:
With the variety of neurologic disorders that can manifest in ataxia, a dedicated ataxia clinic can lead to clarification in diagnosis due to subspecialized evaluations. This clarity, along with changes in management through treatment and lifestyle modifications, can lead to improved patient outcomes.
Disclaimer: Abstracts were not reviewed by Neurology® and do not reflect the views of Neurology® editors or staff.