• Julianna E Shinnick, Kimberly Schadt, Cassandra Strawser, Nicholas Wilcox, Susan L Perlman, George R Wilmot, Christopher M Gomez, Katherine D Mathews, Grace Yoon, Theresa Zesiewicz, Chad Hoyle, S H Subramony, Eppie M Yiu, Martin B Delatycki, Alicia F Brocht, Jennifer M Farmer, and David R Lynch.
• Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
• J. Child Neurol. 2016 Aug 1; 31 (9): 1161-5.

AbstractFriedreich 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.© The Author(s) 2016.

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