To evaluate the prevalence of gastrointestinal (GI) and genitourinary (GU) symptoms and their impact on quality of life in people with facioscapulohumeral muscular dystrophy (FSHD) compared to healthy household controls.

Anecdotally, patients with FSHD describe GI and GU symptoms.  Similar symptoms are reported in patients with other muscular dystrophies, but the prevalence is unknown in FSHD.

We used a questionnaire, modified from a prior study, to assess the frequency and severity of GI and GU symptoms and their impact on quality of life.  The questionnaire was developed using REDCap and the link was distributed by email to all FSHD Society patient contacts (n=3507).  Only respondents (n=702; 652 with FSHD) aged >18 were included.

Demographics of patients with FSHD and household controls were similar, with median age 56 years in both groups.  Symptoms significantly more common in people with FSHD compared to controls included difficulty with swallowing (p=0.005), abdominal pain (p=0.014), constipation (p=0.026), bowel incontinence (p<0.001), daytime urinary incontinence (p=0.027), and need to urinate again within 15 minutes (p=0.002).  People with FSHD also reported modifying how they ate due to swallowing difficulty (p=0.045).  Symptoms in each of the discrete categories of swallowing, bowel, and bladder symptoms were reported to decrease quality of life.  There was no difference between people with FSHD and household controls in use of medications for these symptoms. 

Symptoms of GI and GU dysfunction have an increased prevalence in people with FSHD compared to healthy household controls and these symptoms negatively impact quality of life.  While we suspect some of these symptoms result directly from the disease, others, like incontinence, may be secondary to impaired mobility.  These results suggest that further investigation into etiology and treatment of these underappreciated symptoms of FSHD will improve patients’ quality of life.