Abstract
Duchenne Muscular Dystrophy (DMD) is an X-link reccessive disorder, caused by mutation in dystrophin gene. Therefore body is incapable to synthesize dystrophin, the protein needed for muscle contraction. The incidence of DMD 1: 4000 male with age 3 to 5 years. Furthermore the patient will experience functional decline, loss of ambulation and early death due to cardiac or respiratory failure. Patient will be unable to walk at the beginning of second decade and usually decease at the age of 20s. Hereby we reported a male, 6-years-old presented with weakness on both of his legs. Patient had history of recurrent falls while walking and difficulty to climb stairs since 3-years-old. Patient also had difficulty to stand up immediately from sitting position. He had to grab his feet in order to make climb movement before stand up. Physical examination showed pseudo hypertrophy of calf muscle and positive Gower Maneuver. Laboratory examination showed creatinin kinase 16.891 (about 113 times higher than normal value). EMG revealed lesion of the muscle. Biopsy was taken from left muscle gastrocnemius and showed variability of muscle size without regeneration and fibrosis. The result of genetic test showed deletion of Dp427c and exon 1-2 of dystrophin gen. After been treated with corticosteroid for a year, the patient showed improvement in his gait moreover the weakness on both of his legs has became lessen. We emphasized the importance of early and accurate diagnosis of DMD for better quality of life.
Highlights
Duchenne Muscular Dystrophy (DMD) is an atypical inherited musculoskeletal disorder characterized by progressive muscular weakness in early stage and pathologic features of fibrosis with fatty replacement, in late stage [1]
Duchenne Muscular Dystrophy is an X-linked recessive disorder leading to mutation and delesion of dystrophin gene, the body is unable to synthesize dystrophin, protein needed for muscle contraction
Laboratory examination showed increase of creatinin kinase (16,891 U/L) about 113 fold from normal value suggesting the suspicion of progressive muscular dystrophy
Summary
Duchenne Muscular Dystrophy (DMD) is an atypical inherited musculoskeletal disorder characterized by progressive muscular weakness in early stage and pathologic features of fibrosis with fatty replacement, in late stage [1]. Spontaneously helped by doctor with birth weight 2900 gram from non-consaguineous marriage He appeared normal at birth, he was able to stand up on his own and walk when he was 16-month-old without crawling first. The needle of EMG on musculus gastrocnemius and caput medialis sinistra showed PSW +4, fibrillation +4, MUAP: early recruitment, polyphasic, low amplitude, shorten duration These finding concluded that the lesion was on the muscle (Figure 3). Biopsy was performed from left muscle gastrocnemius and showed variability of muscle size without regeneration and fibrosis, which can be part of muscular dystrophy (Figure 4). These finding didn’t specific for muscular dystrophy genetic testing were performed. The EMG found normal nerve rate of nervus medianus sinistra, nervus ulnaris sinistra, nervus peroneus sinistra, nervus
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