International Journal of Celiac Disease
ISSN (Print): 2334-3427 ISSN (Online): 2334-3486 Website: Editor-in-chief: Samasca Gabriel
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International Journal of Celiac Disease. 2015, 3(4), 162-164
DOI: 10.12691/ijcd-3-4-9
Open AccessCase Report

Celiac Disease Associated with Facioscapulohumeral Muscular Dystrophy

Dorottya Kocsis1, , László Herszényi1, Miklós Tóth1, Zsolt Tulassay1 and Márk Juhász1

1Semmelweis University, 2nd Department of Internal Medicine, Budapest, Hungary

Pub. Date: November 16, 2015

Cite this paper:
Dorottya Kocsis, László Herszényi, Miklós Tóth, Zsolt Tulassay and Márk Juhász. Celiac Disease Associated with Facioscapulohumeral Muscular Dystrophy. International Journal of Celiac Disease. 2015; 3(4):162-164. doi: 10.12691/ijcd-3-4-9


Introduction. The association of celiac disease and facioscapulohumeral muscular dystrophy was not reported earlier in the literature. Case presentation. A 35-year-old woman diagnosed clinically with facioscapulohumeral muscular dystrophy 23 years ago. In the family history patients’ mother was diagnosed with facioscapulohumeral muscular dystrophy, too. Physical examination revealed bilateral facial weakness, she had narrow smile and murmuring speech. She had low-degree atrophy of shoulder girdle muscles with left-dominated scapular winging. facioscapulohumeral muscular dystrophy DNA testing showed allele 1 deletion. From 2001 on, patient presented epigastrial pain, diarrhoea, weight loss. She had permanent fatigue and she was unable to do regular physical exercises, which led to the progression of muscular dystrophy. Since serological examination detected elevated tissue transglutaminase and deaminated gliadin peptide antibodies levels, and duodenal biopsy revealed subtotal villous atrophy. Celiac disease was diagnosed. She started strict gluten free diet. After 3 months of gluten free diet, patient reported the elimination of gastrointestinal symptoms, better general condition, weight gain and increased muscle strength. Conclusion. Appropriate nutrition is essential for facioscapulohumeral muscular dystrophy patients, therefore detection and treatment of any disorders leading to malabsorption, most commonly celiac disease, are of utmost importance.

celiac disease malabsorption facioscapulohumeral muscular dystrophy gluten free

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