2699

DUCHENNE’S MUSCULAR DYSTROPHY (CASE REPORT)

Purboyo Solek, Wedi Iskandar, Nelly Amalia

Department of Child Health Medical School Padjadjaran

University-Hasan Sadikin Hospital Bandung, Indonesia

Duchenne’s muscular dystrophy is an X-linked recessive inheritance disease, characterized by weakness of the skeletal muscles that develop in a chronic-progressive way. The clinical signs manifest by age 5 or 6 years and not later than 8 years. The incidence is approximately 13-33 per 100,000 male births and is associated with a high mutation rate. One-third of all cases are new mutants, another one-third have the same family history of this disease and the rest have not known the etiology (most of them are mutant carriers). We reported a case, H, 6-year-old boy, who was admitted to the Neuropediatric Department of Hasan Sadikin General Hospital with chief complaint: difficulty in rising from the floor. His uncle who had also the same symptoms, died in age 16. The clinical signs: weakness of the skeletal muscles, mainly hip muscles, predominantly gluteus maximus, Gower’s sign, toe-walking, waddling gait, hypertrophy of calf muscles, decrease of the patellar tendon reflex and lumbar lordosis. Sensory and vegetative systems are not affected. Laboratory findings revealed increased level of creatine-kinase enzyme. Histology examination: fatty infiltration of the striated muscle tissues, sarcolemmal fibrosis. EMG examination: myogenic lesion. There were no abnormalities in ECG and IQ examinations. Although chromosome analyses has failed to find the abnormal chromosome and DNA analyses has not been done yet, we strongly suspected this case as Duchenne’s muscular dystrophy. Management: physiotherapy, family education and genetic councelling.