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DISTROFI MUSKULAR DUCHENNE

Abstract

Abstrak
Anak laki-laki umur 10 tahun 9 bulan dirawat di bangsal anak RSUP Dr. M. Djamil Padang dengan keluhan sukar berdiri sejak 2 tahun yang lalu. Riwayat penyakit sekarang adalah pasien sering kram otot betis dan jika mau berdiri, berjongkok terlebih dahulu, kedua tangan bertumpu pada kedua lutut (manuver Gowers) sejak usia 3 tahun. Pasien sering jatuh ketika berjalan sejak usia 5 tahun dan dada mulai tampak membusung ke depan. Sejak usia 8 tahun harus di bantu untuk berdiri dan berjalan dengan posisi kaki berjinjit. Riwayat keluarga dengan kelainan otot tidak ada. Pemeriksaan fisik ditemukan lordosis, pseudohipertropi m.gastrocnemeus, kekuatan otot ekstremitas inferior berkurang dari normal. pemeriksaan kadar creatine kinase meningkat yaitu 1860 U/L (normal : 24- 170 U/L). elektromiogram menyokong untuk miopati dengan gambaran gelombang positif, fibrilasi, amplitudo rendah dan pontensial polifasik. Biopsi otot tidak dilakukan karena keluarga menolak. Pada pasien ini diberikan prednison 0,75 mg/kg BB/hari, suplemen kalsium dan vitamin D.
Kata kunci : distrofi muskular duchenne, manuver Gowers, creatine kinase
Abstract
A 10 years and 9 months old boy was hospitalized in Pediatric Department of Dr.M. Djamil Hospital Padang with chief complaint need help for standing since 2 years ago. The Symptons were he had recurrent cramps and needing to turn onto his front and rise to standing from the floor using a broad-based stance with the support of his hand on his thigh (Gowers maneuver) since seven years ago. He often fall when he walked and appearance lordotic posture since five years old. Since eight years old he needed for standing and walking with his toes. The patient was born with vaccum extraction, with body birth weight 2900 grams, full term. No family history of muscle disease. Physical examination founded lordosis, pseudohypertrophy of the calves, weakness of muscles of inferior extremities with sensory was normal. Level of creatine kinase was 1860U/L (normal: 24-170 U/L). Electromyography showed myopathic with characterized fibrillations, positive waves, low amplitudepolyphasic potentials. Muscle biopsy could not be done because his parents not agree. The therapy for this patient was prednisone 0,75 mg/kgbb/day, supplement orally calcium and vitamin D.
Key words : Duchenne Muscular Dystrophy, Gowers maneuver, muscle disease
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