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2012, Volume 28, Number 3, Page(s) 259-265     
[ Abstract (Turkish) ] [ PDF ] [ Similar Articles ]
DOI: 10.5146/tjpath.2012.01133
A Regional Panorama of Dysferlinopathies
Gülden DİNİZ1, Gaye ERYAŞAR2, Sabiha TÜRE2, Ayfer AKÇAY3, Ragıp ORTAÇ1, Hasan TEKGÜL3, Galip AKHAN4
1Department of Pathology, Dr. Behçet Uz Children's Hospital, İZMİR, TURKEY
2Department of Neurology, İzmir Atatürk Education Hospital, İZMİR, TURKEY
3Department of Pediatric Neurology, Ege University, Faculty of Medicine, İZMİR, TURKEY
4Department of Neurology, Katip Çelebi University, Faculty of Medicine, İZMİR, TURKEY
Keywords: Muscular dystrophies, Muscle cells, Immunohistochemistry

Objective: We describe the characteristic features of 11 patients (6 men and 5 women) with dysferlinopathies confirmed by muscle biopsies. In addition, we aimed to provide a realistic comprehensive picture of the severe muscle diseases in the Aegean Region of Turkey.

Material and Method: We retrospectively reviewed 90 patients who underwent muscle biopsy examinations between 2008 and 2011 in the pathology laboratory of Izmir Dr.Behcet Uz Children's Hospital. Biopsy specimens of all patients clinically diagnosed as muscular dystrophy referred from 4 different centers of neurological disorders were collected.

Results: Dystrophinopathy was the most (n=45) and gammasarcoglycanopathy was the second common (n=13) muscular dystrophy in this series. The mean age of all 90 patients was 8.8 years (3 months- 64 years). Only 14 cases (15.5%) were older than 14, and 23 cases were younger than two years. Dysferlinopathy was the most common dystrophy in the older age group. There were statistical significant differences between the types of dystrophy and inflammation (0.021), creatine kinase levels (p= 0.001), age (p=0.001), and gender (p<0.001) of the patients.

Conclusion: The present study revealed that dysferlinopathies is not an uncommon form of muscular dystrophies in western Turkey. We have concluded that if avoidance from unnecessary therapeutic interventions is desired, we must be aware of the relative frequencies of dysferlinopathies.

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