Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.

ABSTRACT:

Objective

To investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1).

Methods

We searched a North American FSHD registry and the University of Rochester (UR) FSHD research database, reviewed the literature, and sent surveys to 14 FSHD referral centers in the United States and overseas to identify patients with genetically confirmed FSHD1 with a diagnosis of Coats syndrome.

Results

Out of 357 genetically confirmed patients in a North American FSHD registry and 51 patients in the UR database, 3 patients had a self-reported history of Coats disease (0.8%; 95% confidence interval 0.2%-2.2%). In total, we identified 14 patients with FSHD with known genetic contraction

SUBMITTER: Statland JM 

PROVIDER: S-EPMC3691782 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature