Celiac disease associated with facioscapulohumeral muscular dystrophy

Dorottya Kocsis, László Herszényi, Miklós Tóth, Z. Tulassay, Márk Juhász

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)162-164
Number of pages3
JournalInternational Journal of Celiac Disease
Volume3
Issue number4
DOIs
Publication statusPublished - 2015

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Facioscapulohumeral Muscular Dystrophy
Celiac Disease
Gluten-Free Diet
Atrophy
Gliadin
Muscular Dystrophies
Muscle Strength
Physical Examination
Weight Gain
Fatigue
Weight Loss
Diarrhea
Alleles
Mothers
Exercise
Biopsy
Pain
Muscles
Peptides
Antibodies

Keywords

  • Celiac disease
  • Facioscapulohumeral muscular dystrophy
  • Gluten free
  • Malabsorption

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Cite this

Celiac disease associated with facioscapulohumeral muscular dystrophy. / Kocsis, Dorottya; Herszényi, László; Tóth, Miklós; Tulassay, Z.; Juhász, Márk.

In: International Journal of Celiac Disease, Vol. 3, No. 4, 2015, p. 162-164.

Research output: Contribution to journalArticle

Kocsis, Dorottya ; Herszényi, László ; Tóth, Miklós ; Tulassay, Z. ; Juhász, Márk. / Celiac disease associated with facioscapulohumeral muscular dystrophy. In: International Journal of Celiac Disease. 2015 ; Vol. 3, No. 4. pp. 162-164.
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