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.

journal_name

J Child Neurol

authors

Shinnick JE,Schadt K,Strawser C,Wilcox N,Perlman SL,Wilmot GR,Gomez CM,Mathews KD,Yoon G,Zesiewicz T,Hoyle C,Subramony SH,Yiu EM,Delatycki MB,Brocht AF,Farmer JM,Lynch DR

doi

10.1177/0883073816643408

subject

Has Abstract

pub_date

2016-08-01 00:00:00

pages

1161-5

issue

9

eissn

0883-0738

issn

1708-8283

pii

0883073816643408

journal_volume

31

pub_type

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