title: Urologic and gastrointestinal symptoms in the dystroglycanopathies.
abstract: OBJECTIVE
  To determine the frequency of urologic and gastrointestinal (GI) symptoms in a cohort of individuals with dystroglycanopathy compared with healthy household controls.
  
  
  METHODS
  Participants in a North American dystroglycanopathy natural history study (NCT00313677) and other members of their households completed a questionnaire modified from validated instruments and clinical criteria. Urologic and GI symptom frequency, effect on patient life, and medications taken for these symptoms were assessed. Those younger than 4 years or not toilet trained were excluded. Healthy human bladder, esophagus, and duodenum from surgical specimens were immunostained for glycosylated α-dystroglycan.
  
  
  RESULTS
  Thirty of 58 potential participants with dystroglycanopathy (51.7%) and 16 household controls participated. Subjects were aged 6 to 51 years (mean 26.7); 60.0% were female. Controls were aged 7 to 55 years (mean 34.6); 56.3% were female. The dystroglycanopathy cohort had higher frequency of urinary voiding symptoms (p = 0.02), higher urologic symptom scores (p = 0.05), and higher dysphagia symptom scores (p = 0.04). A correlation existed between urologic symptom score and effect on life (r = 0.71; 95% confidence interval 0.46, 0.85; p < 0.0001) and between dysphagia symptom score and effect on life (r = 0.72; 95% confidence interval 0.48, 0.86; p < 0.0001). Glycosylated α-dystroglycan was present in visceral smooth muscle of all normal tissues analyzed.
  
  
  CONCLUSIONS
  Urologic symptoms and dysphagia are reported more frequently by individuals with dystroglycanopathies than by household controls. These symptoms can cause a perceived negative effect on patient life. Our results suggest urologic and GI dysfunction may be part of the dystroglycanopathy phenotype, and that questions about these symptoms should be incorporated into routine care because they may influence medical management.
authors.affiliation: From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City. cameron-crockett@uiowa.edu.
authors.forename: Cameron D
authors.initials: CD
authors.lastname: Crockett
authors.affiliation: From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City.
authors.forename: Laura A
authors.initials: LA
authors.lastname: Bertrand
authors.affiliation: From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City.
authors.forename: Christopher S
authors.initials: CS
authors.lastname: Cooper
authors.affiliation: From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City.
authors.forename: Riad M
authors.initials: RM
authors.lastname: Rahhal
authors.affiliation: From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City.
authors.forename: Ke
authors.initials: K
authors.lastname: Liu
authors.affiliation: From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City.
authors.forename: M Bridget
authors.initials: MB
authors.lastname: Zimmerman
authors.affiliation: From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City.
authors.forename: Steven A
authors.initials: SA
authors.lastname: Moore
authors.affiliation: From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City.
authors.forename: Katherine D
authors.initials: KD
authors.lastname: Mathews
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D003680:Deglutition Disorders / Q000175:diagnosis* / Q000523:psychology; D049030:Dystroglycans / Q000032:analysis; D005260:Female; D005767:Gastrointestinal Diseases / Q000175:diagnosis* / Q000523:psychology; D006801:Humans; D008297:Male; D008875:Middle Aged; D011788:Quality of Life / Q000523:psychology; D011795:Surveys and Questionnaires; D014570:Urologic Diseases / Q000175:diagnosis* / Q000523:psychology; D055815:Young Adult
chemical_list: D049030:Dystroglycans