Hastuti Sri
Background:DuchenneMuscular Dystrophy (DMD) is the most common X-linked disordermuscular dystrophy in children. It has incidence 1:3500 infants. It occurs most commonlyin boys between 3-5 years old and caused by mutation in the gene for the protein dystrophin whichimportant to maintain the musclecell membrane. Its characterized by symmetrical proximal muscle weakness and calf hypertrophy.This can result in trouble of standing up and walking. One of the clinical presentation of DMD ispositive Gower’ssign. There’s usually delay in motor development and followed by death from cardiac or respiratory complications. Thediagnostic test for DMD are Creatine Kinase, genetic testing, and muscle biopsy. Although we still aim to provide cure for this disorder, treatment suchas corticosteroid therapy have provided improvements in function, quality of life, and life expectancy. Aim is to identify clinical features of signs, symptoms and characteristic of DMD. Method:Observational descriptive study of patient’s medical records. A 10 year old boy patient presented with weakness of both lower limb. His parents gave medical history of repeated falls, and has family history that one of his maternal uncle died of the same illness at young age.The general physical examination, the child presented with difficulty in standing, walking, getting up from sitting position, proximal weakness, mild hamstring muscle and achilles tendon contracture, calf hypertrophy and positive Gower’s sign.With the thoracolumbal x-ray showed that hehad mild scoliosis. For the treatment, patient got Prednisolone daily and physical rehabilitation and showed improvement of clinical sign.
Conclusion:DMD is inherited musculoskeletal disorder that affects boys with age range between 3-5 year. The simple clinical diagnostic of DMD is Gower’s sign and calf hypertrophy. The average life expectancy of DMD is 26yo, some cases may live into their 30s.
Keyword:DMD, X-linked disorder, calf hypertrophy, Gower’s sign.