Muscular dystrophies duchenne type

Duchenne-type muscular dystrophy is due to mutations in the gene, located on the X chromosome, encoding the protein dystrophin. 

The clinical picture in male children can closely resemble Duchenne-type muscular dystrophy in adults, it mimics limb-girdle dystrophy or polymyositis. The early and severe involvement of respiratory muscles in most patients with AMD is a distinctive clinical clue. Respiratory failure and pulmonary infection are the most common causes of death. 

The copious muscle enzyme efflux in Duchenne-type muscular dystrophy, giving gross serum elevations despite the rapid serum clearance, may well deplete some muscle enzymes that so much aldolase still remains may indicate a replacement so rapid that, if applied to the transaminases and to lactic dehydrogenase, the muscle content may be maintained or even increased, since their serum elevations, though considerable, are proportionately much less than that of aldolase. 

Again, continued loss of dystrophic muscle must diminish its total enzyme efflux. In Duchenne-type muscular dystrophy the highest serum enzyme elevations occur in early childhood, diminish as the disease pro-... 

Figures 7, 8, and 9 (pp. 170 and 171) show the eflFects after a week in bed, though free to move about in it (WIO), of 2 days of ordinary ambulation on the serum enzymes of three little boys at difi erent stages of Duchenne-type muscular dystrophy (T8). Such modified rest has little effect, except on SGPT in the earliest case, but the immediate and extreme...

Fig. 4. Relationship between serum aldolase activity and exact age in Duchenne-type muscular dystrophy.

Figs. 7, 8, and 9. Effect of physical activity after rest in ambulant Duchenne-type muscular dystrophy. A, on admission before being put to bed B and C, on morning and evening of first day out of bed D and E, on morning and evening of second day out of bed. 

K8b. Kloepfer, H, W., and Talley, C., Autosomal recessive inheritance of Duchenne-type muscular dystrophy. Ann. Human Genet. 22, 138 (1958). 

Adverse respiratory effects are uncommon with calcium channel blockers. However, three cases of acute broncho-spasm accompanied by urticaria and pruritus have been reported in patients taking verapamil (51), and a patient with Duchenne-type muscular dystrophy developed respiratory failure during intravenous verapamil therapy for supraventricular tachycardia (52). Recurrent exarcer-bations of asthma occurred in a 66-year-old lady with hypertension and bronchial asthma given modified-release verapamil (53). 

Atherogenesis Emphysema bronchitis Duchenne-type muscular dystrophy... 

---