Data from a study published in the Orphanet Journal of Rare Diseases
concludes that a high percentage of Friedrich’s Ataxia (FA) patients have symptoms suggestive of dysfunction of the lower urinary tract, bowel and sexual organs.1
These symptoms can be detrimental to patients and should be addressed by clinicians.
FA is a genetic autosomal recessive neurodegenerative condition and can cause significant nervous system damage leading to movement and functionality issues throughout the body. Symptoms most commonly present in patients between the ages of 5 and 18 years, and leads to progressive impairment and eventual loss of muscle coordination.
The intention of the study was to evaluate the prevalence of lower urinary tract symptoms, bowel and sexual symptoms in FA patients. Survey scores measuring the symptoms were assessed with descriptive statistics as a cohort and as subgroups, including early/late-onset and early/late-stage FA. These symptoms were correlated with validated measures of disease severity
All 59 patients (31 males) enrolled in the study were older than 16 years of age and had a median age of 35 years. Each had a confirmed FDRA diagnosis by genetic analysis with homozygous expansions of intron 1 of the FXN
gene and the mean duration of ataxia was 19 years. Twenty-four patients were wheelchair-bound. Clinical features present in the patients are shown in Table 1.
Table 1: Clinical Features
|Reduced Vibration Sense
|Lower-limb Muscle Weakness
|Extensor Plantar Reflexes
|Saccadic Pursuit Eye Movements
|Patellar Reflexes Present
According to the results of the study, 80% of FRDA patients reported lower urinary tract symptoms, and 64% reported bowel symptoms. Per the Arizona Sexual Experience Scale (ASEX) criteria, only 25% of patients were classified as having sexual dysfunction. While lower urinary tract symptoms were the most frequently reported symptoms in the cohort, only 24% of patients were on any form of treatment for it that presentation.
The study authors concluded that lower urinary tract symptoms, bowel and sexual symptoms are all under-recognized, under-discussed and undertreated. Future studies will allow clinicians to distinguish whether these symptoms are related to pelvic dysfunction and target therapies to manage patients in a multi-disciplinary setting.
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- Duchin JS. Urinary, bowel and sexual symptoms in a cohort of patients with Friedrich’s ataxia. Orphanet Journal of Rare Diseases. 2017;158(12). ojrd.biomedcentral.com/articles/10.1186/s13023-017-0709-y.