Coats syndrome in facioscapulohumeral dystrophy type 1

Frequency and D4Z4 contraction size

Jeffrey M. Statland, Sabrina Sacconi, Constantine Farmakidis, Colleen M. Donlin-Smith, Mina Chung, Rabi Tawil

Research output: Contribution to journalArticle

35 Citations (Scopus)

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 size and Coats syndrome confirmed by ophthalmologic examination: 10 from our survey and 4 from the literature. The median age at diagnosis of Coats syndrome was 10 years (interquartile range 14 years). The median D4Z4 fragment size was 13 kilobases (kb) (interquartile range 1 kb). One patient was mosaic (55% 11 kb, and 45% 78 kb). Conclusions: Coats syndrome is a rare extramuscular complication of FSHD1 associated with large D4Z4 contractions. Closer surveillance for retinal complications is warranted in patients with D4Z4 fragments ≤15 kb.

Original languageEnglish (US)
Pages (from-to)1247-1250
Number of pages4
JournalNeurology
Volume80
Issue number13
DOIs
StatePublished - Mar 26 2013

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Facioscapulohumeral Muscular Dystrophy
Registries
Retinal Telangiectasis
Databases
Contraction
Syndrome
Referral and Consultation
Confidence Intervals
Research
Surveys and Questionnaires
Data Base
Complications
Rochester

ASJC Scopus subject areas

  • Clinical Neurology
  • Arts and Humanities (miscellaneous)

Cite this

Statland, J. M., Sacconi, S., Farmakidis, C., Donlin-Smith, C. M., Chung, M., & Tawil, R. (2013). Coats syndrome in facioscapulohumeral dystrophy type 1: Frequency and D4Z4 contraction size. Neurology, 80(13), 1247-1250. https://doi.org/10.1212/WNL.0b013e3182897116

Coats syndrome in facioscapulohumeral dystrophy type 1 : Frequency and D4Z4 contraction size. / Statland, Jeffrey M.; Sacconi, Sabrina; Farmakidis, Constantine; Donlin-Smith, Colleen M.; Chung, Mina; Tawil, Rabi.

In: Neurology, Vol. 80, No. 13, 26.03.2013, p. 1247-1250.

Research output: Contribution to journalArticle

Statland, JM, Sacconi, S, Farmakidis, C, Donlin-Smith, CM, Chung, M & Tawil, R 2013, 'Coats syndrome in facioscapulohumeral dystrophy type 1: Frequency and D4Z4 contraction size', Neurology, vol. 80, no. 13, pp. 1247-1250. https://doi.org/10.1212/WNL.0b013e3182897116
Statland JM, Sacconi S, Farmakidis C, Donlin-Smith CM, Chung M, Tawil R. Coats syndrome in facioscapulohumeral dystrophy type 1: Frequency and D4Z4 contraction size. Neurology. 2013 Mar 26;80(13):1247-1250. https://doi.org/10.1212/WNL.0b013e3182897116
Statland, Jeffrey M. ; Sacconi, Sabrina ; Farmakidis, Constantine ; Donlin-Smith, Colleen M. ; Chung, Mina ; Tawil, Rabi. / Coats syndrome in facioscapulohumeral dystrophy type 1 : Frequency and D4Z4 contraction size. In: Neurology. 2013 ; Vol. 80, No. 13. pp. 1247-1250.
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