CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY BY CPK ACTIVITY TESTING AND CONVENTIONAL NEEDLE EMG

Azeez AL-Hamadani, Hasan; Fouad Rabie, Salam; Abdul-Kareem Alsheikhly, Abdul-Muttalib

	CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY BY CPK ACTIVITY TESTING AND CONVENTIONAL NEEDLE EMG
IRAQI JOURNAL OF MEDICAL SCIENCES
Article 1, Volume 5, Issue 3, 2007, Pages 31-38
Authors
Hasan Azeez AL-Hamadani; Salam Fouad Rabie; Abdul-Muttalib Abdul-Kareem Alsheikhly
Abstract
Background: Duchenne Muscular Dystrophy (DMD) is a dismal disease, which exhibits an X-linked mood of inheritance, characterized by progressive proximal muscular weakness, beginning in early childhood, wheel chair dependency by early teens and death from cardiopulmonary complications by the end of the second or third decade. Although the majority of carriers of DMD and Becker muscular dystrophy (BMD) are asymptomatic but they can be identified through minor clinical changes like limited weakness or occasionally bulky calves, and some may have elevated CPK levels and mild EMG changes, and as DMD is incurable disease, and carrier detection and genetic counseling are an important aspect of the global approach to limiting the number of patients with DMD and BMD and of carriers. The Objective of the study is to test the value of CPK and conventional needle EMG muscle testing in detecting carriers in a group of Iraqi females with their sons having DMD and BMD. Patients and Methods: The study was conducted in AL-Kadhimiya Teaching Hospital Section of Neurology from October 2002 to December 2003, where a group of 20 female carriers of DMD and BMD, from 15 families were studied and compared to other Control group of 20 females randomly picked up. To each female studied full medical history, neurological examination, including manual muscle power testing, and Pedigree analysis taken, and to each female in the study CPK testing, ECG, with cardiac Echo, and Conventional needle EMG were done. Results: Only one female carrier (5%) had mild proximal muscle weakness, cardiac involvement only one (5%), had mildly dilated left ventricle but with normal systolic function. 11 (55%) female carriers had mildly elevated CPK above the upper reference range (170 U/L); 10 (58.8%) DMD, and 1 (33.33%) of BMD. And there is significant (p<0.05) difference in CPK activity between the two groups. There is negative correlation between the age of female carriers and the CPK activity. 9 female carriers (45%) total, (52.94%) of DMD had proximal myopathic EMG changes, which were more prominent in the upper limbs. And there is significant (P< 0.05) difference in mean amplitudes of motor unit action potentials of Biceps Brachii, and Vastus Medialis muscles. Conclusion: As the CPK and EMG testings are simple, non costly and readily available tests, and as they can be positive to some extent in a proportions of carriers so they can be performed on all possible carriers in the families of DMD & BMD as a simple screening test, especially the CPK, better to perform at an earlier age, and the EMG at an older age because it requires cooperation. This has a significant impact on genetic counseling, aiming at preventing the spread of this bleak disease. Keywords: Duchenne, Becker, Musclar dystrophy, Female carriers, CPK and Conventional EMG.
Keywords
Duchenne; Becker; Musclar dystrophy; Female carriers; CPK and Conventional EMG; cpk

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