[Relations between delayed diagnosis and forms of onset in Duchenne muscular dystrophy]

Abstract

Duchenne Muscular Dystrophy (DMD) is usually diagnosed several years after the onset of symptoms. The relatives of the patients with DMD frequently consult family physicians when they notice the first symptom. The purpose of this study was to determine the cause that influence the delayed diagnosis of DMD. Twenty-two patients with confirmed diagnosis of DMD were interviewed at two Neurology Centers (Mexican Social Security Institute) in Monterrey, Nuevo León, México. Two forms of onset of DMD: Retarded development and locomotion problems were found, confirming other studies. The mean age of onset of symptoms for 22 patients was 2.4 years. The mean age for DMD diagnosis was 4.9 years. Retarded development occurred in 12 (54.4%) of all cases and the age of diagnosis was between 1 and 6 years of age. In 10 cases of the group with locomotion problems (45.4%) the diagnosis was made between 3 and 11 years of age. The serum Creatine Kinase was increased in all patients and in the early stages these levels were much higher than late stages. Family physicians have opportunities to make early diagnosis of DMD if they are aware of the two forms of onset of the disease: Retarded development and locomotion problems and of the changes in serum CK levels. The findings of this study confirm the importance of family physicians in that respect and also in making recommendations for routine determination of serum Creatine Kinase (CK) as early as possible in a child with symptoms suggestive of DMD.