PP86. LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A (LGMD2A, CALPAINOPATHY) IN BULGARIA
GEORGIEVA Bilyana1,2, Todorova Albena2, Todorov Tihomir2, Tournev Ivailo3, Kremensky Ivo2, Mitev Vanyo1. 1. Department of Chemistry and Biochemistry, Medical Faculty, Sofia Medical University; 2. Laboratory of Molecular Pathology, Hospital of Obstetrics and Gynecology, Sofia Medical University; 3. Department of Neurology, Alexandrovska Hospital, Sofia Medical University. e-mail: gueorguievab@yahoo.com
*Corresponding Author:
page: 86

Abstract

Calpainopathy is the most frequent LGMD2 form in Bulgaria and accounts for at least 50% of all LGMD2 cases. A total of 22 Bulgarian patients (20 unrelated families) were diagnosed on DNA level. Two of the families were reported previous [Richard et al., 1999]. In 40% of the cases the first clinical diagnose was different from LGMD, namely Duchenne/Becker muscular dystrophy and spinal muscular atrophy. The affected females are two times more than the males. Females present with later onset, slowly progression, milder course of the disease, become wheelchair bound later than males. More frequently found in males are calf hypertrophy, early contractures, proximal muscle weakness in the four extremities simultaneously, pelvic/shoulder muscles weakness. Heart involvement was seen rare. Interfamilial and intrafamilial variability was also observed. We detected 11 CAPN3 gene mutations. Five of them (45%) affect exons 4 and 7 and cover 65% (26/40) of the unrelated pathological chromosomes. The most frequent mutations are c.550delA-50%, p.Glu323X-7.5% and the big deletion of seven exons (del2-8)-5%. They were found in 70% (14/20) of the families and cover 62% (25/40) of the unrelated pathological chromosomes. The other 8 mutations are rare and were found in single cases. In 6 families the second mutation was not found. Five mutations (p.Arg118Gly, p.Arg169Gly, p.Gly333Asp, c.1811_1812delTC and c.1981_1984delATAG) were found only in Bulgarian patients. Our experience permits to perform an adequate prophylaxis of LGMD2A in Bulgaria - to diagnose LGMD2A on DNA level, to determine carrier status and perform prenatal diagnosis of the disease.




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