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 Neuroljournal_title
Journal of child neurologyauthors
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 DRdoi
10.1177/0883073816643408subject
Has Abstractpub_date
2016-08-01 00:00:00pages
1161-5issue
9eissn
0883-0738issn
1708-8283pii
0883073816643408journal_volume
31pub_type
杂志文章,多中心研究abstract::Torticollis refers to a twisting of the head and neck caused by a shortened sternocleidomastoid muscle, tipping the head toward the shortened muscle, while rotating the chin in the opposite direction. Torticollis is seen at all ages, from newborns to adults. It can be congenital or postnatally acquired. In this review...
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