Objective: This study correlate the number of GAA repetitions of alleles, the duration of the disease, and the age at the onset of the disease with urinary symptoms and urodynamic findings in Friedreich’s ataxia (FA) patients.

Background: FA is the most common type of hereditary ataxia. Urinary tract disorders including neurogenic bladder (NB) and its complications have been associated with FA. NB is characterized by abnormalities in bladder function as well as urethral sphincter function, after neurological insult; it can thus produce irreparable damage to the urinary tract. Urgency, incontinence, and mainly an increase in intravesical pressure leading to vesicoureteral reflux, hydronephrosis and consequently impaired kidney function are the principal findings from NB.

Methods: Fifty patients with FA were retrospectively evaluated regarding urinary symptoms. Patients who presented urinary symptoms underwent a urinary tract investigation with renal function exams, kidney and urinary tract ultrasounds, and urodynamic studies.

Results: There was no statistically significant difference between the mean duration of the disease of patients with urinary symptoms and without urinary symptoms, nor between the patients with normal and abnormal detrusor contractions (p=0.16; p=0.55, respectively). The onset of the disease was later in the patients with urinary symptoms and abnormal detrusor contractions, but this difference was not statistically significant (p=0.22; p=0.17, respectively). The comparison between the mean number of GAA repetitions in the smaller and larger allele of the asymptomatic and symptomatic patients was not statistically significant, nor was it statistically significant between the patients with and without abnormal detrusor contractions. We did not find statistical significance when comparing the difference between the smaller and larger alleles in patients with or without urinary symptoms, and with or without abnormal detrusor contractions.

Conclusions: This study did not find a relationship between the size of the alleles, the difference between them, the age at onset of the disease or the duration of the disease with urinary symptoms and abnormal detrusor contractions.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/gaa-expansion-with-clinicurodynamic-findings-in-friedreichs-ataxia-with-luts/