To correlate existing evaluation tools with clinical information on Duchenne muscular dystrophy (DMD) patients following age and to investigate genetic mutation and its relationship with clinical function.
The medical records of 121 children with DMD who had visited the pediatric rehabilitation clinic from 2006 to 2009 were reviewed. The mean patient age was 9.9±3.4 years and all subjects were male. Collected data included Brooke scale, Vignos scale, bilateral shoulder abductor and knee extensor muscles power, passive range of motion (PROM) of ankle dorsi-flexion, angle of scoliosis, peak cough flow (PCF), fractional shortening (FS), genetic abnormalities, and use of steroid.
The Brooke and Vignos scales were linearly increased with age (Brooke (y1), Vignos (y2), age (x), y1=0.345x-1.221, RBrooke2=0.435, y2=0.813x-3.079, RVignos2=0.558, p<0.001). In relation to the PROM of ankle dorsi-flexion, there was a linear decrease in both ankles (right and left R2=0.364, 0.372, p<0.001). Muscle power, Cobb angle, PCF, and FS showed diversity in their degrees, irrespective of age. The genetic test for dystrophin identified exon deletions in 58.0% (69/119), duplications in 9.2% (11/119), and no deletions or duplications in 32.8% (39/119). Statistically, the genetic abnormalities and use of steroid were not definitely associated with functional scale.
The Brooke scale, Vignos scale and PROM of ankle dorsi-flexion were partially available to assess DMD patients. However, this study demonstrates the limitations of preexisting scales and clinical parameters incomprehensively reflecting functional changes of DMD patients.
Citations
Method: L6 cell, rat skeletal myoblast, was cultured in the low mitogen medium and caveolin-3 expression was observed both by immunocytochemistry and western blot analysis. Localization of caveolin-3 within the muscle tissue was investigated and compared to that of dystrophin. Results: While caveolin-3 was not expressed in the proliferating myolast, caveolin-3 was expressed in the differentiated myoblast. Caveolin-3 and dystrophin were co-expressed in the membrane of muscle tissue and integrated density of caveolin-3 was elevated in the area of muscle injury. In the Duchenne muscular dystrophy, caveolin-3 was expressed in the membrane of muscle tissue, but dystrophin was not.
Conclusion: Caveolin-3 was induced during the myobalst differentiation and its expression was increased during the muscle regeneration. Caveolin-3 was physically associated with dystrophin as a complex, but not absolutely required for the biogenesis of dystrophin complex. (J Korean Acad Rehab Med 2003; 27: 382-387)
Objective: To investigate the pattern of exon deletions in Korean patients with Duchenne muscular dystrophy (DMD), and to find the correlation of the exon-deletion with clinical symptoms or laboratory findings.
Method: Genomic DNA of the nine children with DMD were analyzed by the sets of multiplex PCR and one singlet PCR in total of fifteen primers of the dystrophin gene. The primers were made from the promotor, and the exons 3, 4, 6, 8, 12, 13, 43, 44, 47, 48, 50, 51, 52 and 60 of the dystrophin gene, respectively.
Results: Eight out of nine patients revealed exon deletions. The exon 3 was most commonly deleted (6 patients), and exon 48, 50 and 60 were second most common (2 patients). The exons 4, 6, 13, 44, 47 and 52 were not deleted in all patients.
Conclusion: We found that the exons 3, 48, 50 and 60 are frequently deleted in Korean patients with DMD. The pattern of deletion was not correlate with clinical symptoms or laboratory findings.
Duchenne muscular dystrophy(DMD) is an X-linked recessive disease, caused by the mutation of dystrophin gene at Xp21. The dystrophin produced by this gene is therefore absent on the membrane of muscular fiber in the patients with DMD. Recently, it is known that the dystrophin has also been located on the myoepithelial layer of sweat gland in the mice.
We studied the sympathetic skin response(SSR) in a group of DMD patients and a control group to evaluate the function of sympathetic nerve and sweat gland in DMD patients.
Significant prolongation of latency of SSR in the palm and sole was noted in the group of DMD patients compared to the control group. However, there was no significant difference in the amplitude of SSR between two groups. In the patient group, the rise in latency of SSR was closely correlated with the duration of symptoms and weakly associated with the stage of the illness.
Therefore the latency of SSR may be a useful index in assessing the function of sympathetic nerve and sweat gland in DMD patients. These results could be a consequence of a lack of dystrophin at myoepithelium of sweat gland in DMD patients.
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