Résumé :
|
Introduction Myotonic dystrophy (MD1) is the most common form of adult muscular dystrophy with autosomal dominant transmission. It is an inherited disease in which there is an abnormal expansion of CTG trinucleotide repeat at 19q13.3 It is manifested as a chronic progressive multisystem disorder In the present study, we report the clinical and molecular analysis of 14 Algerian patients MD1 Methods Our transverse descriptive study was realized in the service of neurology of the CHU of Oran from January 2005 to January 2007 the patients were selected according to : Beginning and prevalence of the muscular attack at the distal level with facial participation, myotonia shown by the EMG, attack of other organs (eye, heart…), with an abnormal amplification of tri nucleotide CTG, repeated more than 50 times in gene MDPK. For each patient, were taken: the distribution of the weakness and muscular atrophy. the complementary investigations comprised: a biological systematic assessment of CPK, LDH, T3, T4, TSH, FSH, LH, Testosterone, Phosphocalcic assessment and glycaemia, the electromyogram was carried out at all the case index as well as the cardiac assessment. The ophthalmologic examination was carried out among 14 patients. The genetic study carried out among 05 patients RESULTS: 14 MD1 patients from 02 unrelated west Algerian families, mean age 25,7 years (with extremes ones going from 12– 65 years ), with 08 males and 06females. Autosomal dominant transmission was established at the 02 families. - All the patients presented myotonia. the distal muscular weakness was observed among 11 patients , the cataract was observed among 02 patients and the cardiac attac among 04 patients,a sterility was observed among 04 patients associated.Only,02 patients had an isolated sterility. . CONCLUSION:the phenotypical and genotypic analysis of our patients MD1 aooroach similar studies observed in other countries in the world
|