Prospective study of X-linked progressive muscular dystrophy in Campania

Abstract

Within the Campania region of southern Italy a prospective study on X-linked progressive muscular dystrophy was conducted over a period of 12 years from 1969 to 1980, inclusive. The mean incidence rate was 21.7 per 100,000 male livebirths for Duchenne muscular dystrophy (DMD) cases and 3.2 per 100,000 male livebirths for Becker muscular dystrophy (BMD) cases. The familial cases were 38.5% among the DMD patients and 50% among the BMD patients. Myocardial involvement appeared in DMD patients at about 6 years of age in a high percentage of cases and increased progressively until the last years of life, when cardiac damage occurred in 95% of cases. The percentage of myocardial involvement in BMD patients was very low before 13 years of age, but increased progressively until 20 years, when cardiac damage occurred in 80% of cases studied; severe cardiomyopathy did not occur before the age of 21. The data reported also include the effects of age on physical performance, serum creatine kinase activity and serum myoglobin levels, the types of cardiac damage, and the causes of death.