Celiac Disease Associated with Facioscapulohumeral Muscular Dystrophy

Dorottya Kocsis^1, , László Herszényi¹, Miklós Tóth¹, Zsolt Tulassay¹ and Márk Juhász¹

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

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

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.

Keywords:
celiac disease malabsorption facioscapulohumeral muscular dystrophy gluten free

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

Figures

References:

[1]	Husby S, Koletzko S, Korponay-Szabo IR, et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of celiac disease. J Pediatr Gastroenterol Nutr. 2012; 54: 136-160.
[2]	Chin RL, Sander HW, Brannagan TH, et al. Celiac neuropathy. Neurology. 2003; 60: 1581-1585.
[3]	Hadjivassiliou M, Grünewald RA, Chattopadhyay AK, et al. Clinical, radiological, neurophysiological, and neuropathological characteristics of gluten ataxia. Lancet. 1998; 352: 1582-1585.
[4]	Chaudhry V, Ravich WJ. Neurology and General Medicine. 3th ed. New York, NY: Churchill Livingstone; 2001. Other neurological disorders associated with gastrointestinal, liver, or pancreatic diseases; pp. 283-4.
[5]	Tawil R, Van Der Maarel SM, Tapscott SJ. Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle. 2014; 4: 12.
[6]	Statland JM, Tawil R. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Curr Opin Neurol. 2011; 24: 423-428.
[7]	Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006; 34: 1-15.
[8]	Mostacciuolo ML, Pastorello E, Vazza G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet. 2009; 75: 550-555.
[9]	Lunt PW, Compston DA, Harper PS. Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. J Med Genet. 1989; 26: 755-760.
[10]	Olsen DB, Orngreen MC, Vissing J. Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Neurology 2005, 64: 1064-1066.
[11]	Pasotti S, Magnani B, Longa E, et al An integrated approach in a case of facioscapulohumeral dystrophy BMC Musculoskeletal Disorders 2014, 15: 15.
[12]	Chin RL, Sander HW, Brannagan TH, et al. Celiac neuropathy. Neurology. 2003; 60: 1581-1585.
[13]	Alaedini A, Green PH, Sander HW, et al. Ganglioside reactive antibodies in the neuropathy associated with celiac disease. J Neuroimmunol. 2002; 127: 145-148.
[14]	Akimov SS, Krylov D, Fleischman LF, et al. Tissue transglutaminase is an integrin-binding adhesion coreceptor for fibronectin. J Cell Biol. 2000; 148: 825-838.