Publikasi Scopus FKUI 2021 per tanggal 31 Mei 2021 (358 artikel)

Introduction and importance: Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease, affected male at young age, progressive and deteriorating symptoms followed the age and usually died in age 20. The early sign of DMD or early ambulatory DMD appeared lately after walking age, and progressively deteriorated by the time of aging. Case presentation: A 9 years old boy with symptoms of waddling gait, toe walking and difficulty to climb the stairs came to our center to seek medical help. He initially walked with assistance at 18 months, but always fell down when he tried to walk for distance. No family history of developmental delay. He still has the ability to stand up after sitting on the floor and run even with the difficulty. Behavioral problem or academic achievement was according to his age. The way he did to get down the stairs, he had to sit down and the get back up when he finished. His parents’ status of economic and education is low, which brought them difficult to understand their child is in suffer. Clinical discussion: The diagnosis and staging of DMD are quite challenging. A consistency and knowledge to gathered all the information related to history, symptoms, and signs provided the qualified data to overcome the complexity of the case, and to managed the spectrum of the disease appropriately, thus avoid the unnecessary treatment. The symptomatic stage of DMD is distinguished by the spectrum of ambulation. The effective and efficacy of the treatment are depending on good clinical assessment of neuromuscular function. Multidisciplinary team to diagnose and manage the case was needed to create to solve the problem became easier. Conclusion: The early ambulatory DMD is the first symptomatic early warning signs to treat DMD. The oral corticosteroids believed could mainstay the functional outcome the upper limb, avoid severe scoliosis, and maintain the respiratory function as normal as possible. Occupational and physical therapies were proposed to maintain the good quality of life. © 2021 The Author(s)