title: Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.
abstract: Friedreich ataxia is a progressive degenerative disease with neurologic and cardiac involvement. This study characterizes comorbid medical conditions in a large cohort of patients with Friedreich ataxia. Patient diagnoses were collected in a large natural history study of 641 subjects. Prevalence of diagnoses in the cohort with Friedreich ataxia was compared with prevalence in the population without Friedreich ataxia. Ten patients (1.6%) had inflammatory bowel disease, 3.5 times more common in this cohort of individuals with Friedreich ataxia than in the general population. Four subjects were growth hormone deficient, reflecting a prevalence in Friedreich ataxia that is 28 times greater than the general population. The present study identifies specific diagnoses not traditionally associated with Friedreich ataxia that are found at higher frequency in this disease. These associations could represent coincidence, shared genetic background, or potentially interactive disease mechanisms with Friedreich ataxia.
authors.affiliation: Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Julianna E
authors.initials: JE
authors.lastname: Shinnick
authors.affiliation: Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Schadt
authors.affiliation: Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Cassandra
authors.initials: C
authors.lastname: Strawser
authors.affiliation: Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Wilcox
authors.affiliation: Department of Neurology, University of California, Los Angeles, Los Angeles, CA, USA.
authors.forename: Susan L
authors.initials: SL
authors.lastname: Perlman
authors.affiliation: Department of Neurology, Emory University, Atlanta, GA, USA.
authors.forename: George R
authors.initials: GR
authors.lastname: Wilmot
authors.affiliation: Department of Neurology, University of Chicago, Chicago, IL, USA.
authors.forename: Christopher M
authors.initials: CM
authors.lastname: Gomez
authors.affiliation: Department of Neurology, University of Iowa, Iowa City, IA, USA.
authors.forename: Katherine D
authors.initials: KD
authors.lastname: Mathews
authors.affiliation: Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Grace
authors.initials: G
authors.lastname: Yoon
authors.affiliation: Department of Neurology, University of South Florida, and the James A. Haley Veterans' Administration Hospital, Tampa, FL, USA.
authors.forename: Theresa
authors.initials: T
authors.lastname: Zesiewicz
authors.affiliation: Department of Neurology, Ohio State University, Columbus, OH, USA.
authors.forename: Chad
authors.initials: C
authors.lastname: Hoyle
authors.affiliation: Department of Neurology, University of Florida, Gainesville, FL, USA.
authors.forename: S H
authors.initials: SH
authors.lastname: Subramony
authors.affiliation: Murdoch Children's Research Institute, Melbourne, Australia.
authors.forename: Eppie M
authors.initials: EM
authors.lastname: Yiu
authors.affiliation: Murdoch Children's Research Institute, Melbourne, Australia.
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
authors.affiliation: Department of Neurology, University of Rochester, Rochester, NY, USA.
authors.forename: Alicia F
authors.initials: AF
authors.lastname: Brocht
authors.affiliation: Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Farmer
authors.affiliation: Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA lynchd@mail.med.upenn.edu.
authors.forename: David R
authors.initials: DR
authors.lastname: Lynch
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D015897:Comorbidity; D005621:Friedreich Ataxia / Q000150:complications* / Q000188:drug therapy / Q000453:epidemiology*; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000150:complications* / Q000188:drug therapy / Q000453:epidemiology*; D015995:Prevalence; D055815:Young Adult
chemical_list: D013006:Growth Hormone
keywords: Friedreich ataxia; comorbidity; growth hormone deficiency; inflammatory bowel disease