Comorbid Medical Conditions in Friedreich Ataxia

Author:

Shinnick Julianna E.1,Schadt Kimberly1,Strawser Cassandra1,Wilcox Nicholas1,Perlman Susan L.2,Wilmot George R.3,Gomez Christopher M.4,Mathews Katherine D.5,Yoon Grace6,Zesiewicz Theresa7,Hoyle Chad8,Subramony S. H.9,Yiu Eppie M.10,Delatycki Martin B.10,Brocht Alicia F.11,Farmer Jennifer M.1,Lynch David R.112

Affiliation:

1. Departments of Pediatrics and Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

2. Department of Neurology, University of California, Los Angeles, Los Angeles, CA, USA

3. Department of Neurology, Emory University, Atlanta, GA, USA

4. Department of Neurology, University of Chicago, Chicago, IL, USA

5. Department of Neurology, University of Iowa, Iowa City, IA, USA

6. Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

7. Department of Neurology, University of South Florida, and the James A. Haley Veterans’ Administration Hospital, Tampa, FL, USA

8. Department of Neurology, Ohio State University, Columbus, OH, USA

9. Department of Neurology, University of Florida, Gainesville, FL, USA

10. Murdoch Children’s Research Institute, Melbourne, Australia

11. Department of Neurology, University of Rochester, Rochester, NY, USA

12. Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

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.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

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