Early symptoms of Duchenne muscular dystrophy--description of cases of an 18-month-old and an 8-year-old patient.
The paper presents the description of Duchenne progressive muscular dystrophy in an 18-month-old and an 8-year-old boy. The diagnosis was established on the basis of clinical symptoms, such as impaired motor development, hypertrophy of leg muscles, difficulty in walking; elevated serum phosphocreatine kinase activity and pathologic electromyographic recordings. The authors emphasize that the disease is characterized by increased activity of such enzymes as: alanine and aspartate aminotransferases, lactate dehydrogenase and aldolase--observed as early as in the first weeks of life, with normal gammaglutamyltranspeptidase activity suggests progressive muscular dystrophy and makes it possible to establish early diagnosis. Early diagnosis of the disease allows to start rehabilitation earlier, to select an appropriate type of anesthesia in case of surgical treatment and to advise parents within the framework of genetic counseling.
Iwańczak
F
F
2nd Department and Clinic of Pediatrics and Gastroenterology, Medical University, ul. M. Skłodowskiej-Curie 50/52, 50-369 Wrocław, Poland.
Stawarski
A
A
Potyrała
M
M
Siedlecka-Dawidko
J
J
Agrawal
G S
GS
D000410:Alanine Transaminase / Q000097:blood; D000469:Alkaline Phosphatase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D018450:Disease Progression; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D007527:Isoenzymes / Q000097:blood; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008297:Male; D009043:Motor Activity; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology*; D016138:Walking; D005723:gamma-Glutamyltransferase / Q000097:blood
D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase; D005723:gamma-Glutamyltransferase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D003402:Creatine Kinase; D000469:Alkaline Phosphatase