Prevalensi, Spektrum Klinis dan Gambaran Neurofisiologi Kasus Neuromuskular

Abstract

Latar belakang. Sebagian kasus neuromuskular dapat ditegakkan berdasarkan klinis. Pemeriksaan penunjang, pemeriksaan imunologi dan analisis genetik sangat penting diperiksa untuk memastikan diagnosis. Ini merupakan penelitian pertama mengenai prevalensi penyakit neuromuskular di Indonesia.Tujuan. Mengetahui prevalensi, spektrum klinis, dan gambaran neurofisiologi kasus neuromuskular di RSCM periode Januari – Desember 2017.Metode. Penelitian ini bersifat retrospektif dari Januari – Desember 2017.Hasil. Di tahun 2017 terdapat 179 pasien (usia 1 bulan – 18 tahun) yang dirujuk untuk dilakukan pemeriksaan elektromiografi, dan 130 pasien memenuhi kriteria diagnostik penyakit neuromuskular. Dari seluruh pasien kelainan neuromuskular yang sering ditemukan berturut-turut adalah neuropati perifer (22,2%), Duchenne muscular dystrophy (15,6%), brachialis plexus injury (15,2%), Bell’s palsy (7,6%), Erb Palsy (6,1%), chronic inflamatory demyelinating polyneuropathy (5,4 %), spinal muscular atrophy type 1 (4,6 %), spinal muscular atrophy type 2 (3,8%), miastenia gravis okular (3,8%), Limb Girdle muscular dystrophy (3,1%), sindrom Guillain Barre (3,1%), sindrom Guillain Barre-tipe acute motor axonal neuropathy (2,3%), sindrom Guillain Barre-tipe acute motor-sensory axonal neuropathy (1,5%), miastenia gravis umum (1,5%), Charcot Marie tooth (1,5%), miotonia kongenital (1,5%), dan miositis viral akut (1,5%). Kesimpulan. Prevalensi kelainan neuromuskular anak RSCM sebesar 2,6 % dari seluruh pasien yang dilakukan datang ke poli saraf anak. Lima terbanyak kelainan neuromuskular adalah neuropati perifer, Ducchenne Muscular dystrophy, spinal muskular atrofi, sindrom Guillain Barre, dan chronic inflamatory demyelinating polyneuropathy.

Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients

“…This is consistent with the fact that most patients have undergone DNA test for SMA diagnosis. Not all hospitals perform DNA test; thus, not all patients undergo this examination [ 9 ]. The low number of patients with SMA in non-Java Island may be attributed to the lack of awareness about SMA disease.…”

“…The gold standard for detecting SMA is the molecular diagnosis of SMN1 homozygous deletion via deoxyribonucleic acid/DNA test, which has a sensitivity rate of 95% regardless of disease severity [5]. However, magnetic resonance imaging and electromyography are occasionally required to determine disease severity [8][9][10]. However, the high cost of genetic or other supporting tests and the limited resources available can contribute to delayed diagnosis.…”

Suspicion of Duchenne Muscular Dystrophy in A 7-Year-Old Madurese Boy: A Rare Case Report

“…The incidence of these cases reached 1 in 3500-6000 male births each year [1,2]. Although there is no data about pediatric cases in Indonesia, retrospective research in Rumah Sakit Dr Cipto Mangunkusumo showed that DMD is the second most frequent neuromuscular disorder in children [3]. The manifestation of DMD is a progressive loss of muscle strength presenting with delayed motor milestones with or without intellectual disability.…”

“…The incidence of these cases reached 1 in 3500-6000 male births [2]. But until now, there is no data about pediatric cases in Indonesia while RSUPN Dr Cipto Mangunkusumo's (RSCM) research showed that DMD is the most second frequent neuromuscular disorder in children [3]. It is quite complicated to diagnose DMD due to the limited facilities of genetic testing and its high-cost [4].…”

Total Antioxidant from Herbal Medicine as a Possible Tool for the Multifunctional Prevention of Muscular Atrophy

“…The prevalence in Indonesia of neuromuscular in RSCM hospital from January -December 2017 is 2,6% of all patients who come to the neurology outpatient ward. The five most who have neuromuscular disorders are neuropathy peripheral, Duchenne muscular dystrophy, spinal muscular atrophy, Guillain barre syndrome and chronic inflammatory demyelinating polyneuropathy [13].…”