1/2. 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.- - - - - - - - - - ranking = 1keywords = difficulty (Clic here for more details about this article) |
2/2. Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy.We report a 5-year follow-up of two 4-year-old boys with classical Duchenne dystrophy, with an out-of-frame deletion in the Duchenne gene and absence of dystrophin in their muscle, who had a quite remarkable response to an intermittent, low-dosage, regime of prednisolone (0.75 mg/kg/day for 10 days each month, or alternating 10 days on and 10 days off). In the first case there was complete remission of all clinical signs of dystrophy, sustained almost fully up to the present time; in the second, the initial response was almost as marked, sustained for almost 5 years, before showing a fairly rapid decline over the ensuing year that resulted in loss of independent ambulation at the age of 10. Both boys remained around the 50th centile for height and weight, and showed no evidence of demineralization of bone on consecutive dual X-ray absorptiometry scanning of the spine, nor any signs of chronic prednisolone toxicity. These carefully documented individual cases suggest there may be an optimal window for treatment in the early stages of the disease, and further larger scale controlled studies should be targeted more selectively at this stage of the disease. This report also confirms that our regime of low dosage, intermittent prednisolone, with cycles of 10 days of treatment, either per month or alternating with 10 days off treatment, is well tolerated and can therefore be recommended for long-term use in children with Duchenne muscular dystrophy.- - - - - - - - - - ranking = 5360.0539588065keywords = ambulation (Clic here for more details about this article) |