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Dystrophie Otot
Dystrophie Otot
March 19, 2018 | Author: Akbarian Noor | Category:
Muscular Dystrophy
,
Shoulder
,
Muscle
,
Elbow
,
Scoliosis
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Distrofi Otot (Muscular Dystrophy) By Irfan Maulana, Ns., M.Kep., Sp.KMB Seorang anak usia 7 tahun datang dengan kelemahan progresif dari kedua kaki selama 4 tahun. . Definisi Sekelompok gangguan non inflamasi yg diturunkan degeneratif progresif dan kelemahan otot rangka tanpa gangguan sistem saraf perifer/saraf pusat . oculopharyngeal MD. . Emery-Dreifuss MD Autosomal recessive: Limb-Girdle (LGMD). ocular MD. infantile FSHD Autosomal dominant: Facioscapulohumeral (FSHD). distal MD.Klasifikasi Sex-linked: Duchenne MD. Becker MD. 1860s) .Duchenne Muscular dystrophy Guillaume Benjamin Amand Duchenne (French neurologist. Duchenne Muscular dystrophy Etiologi single gene defect Xp21.2 region absent dystrophin . Duchenne Muscular dystrophy . Duchenne Muscular dystrophy . DMD: pathology . DMD: Epidemiology paling sering laki-laki. sindrom Turner 1:3500 kelahiran hidup laki-laki 1/3 mutasi baru 65% riwayat keluarga . DMD: Manifestasi Klinik Onset: usia 3-6 tahun Kelemahan progresif Pseudohipertrofi otot betis Deformitas tulang belakang Ganguan cardiopulmonary Mild – moderat Mitral Regurgitasi . Pseudohypertrhophy otot betis. lordosis kompensasi . Tip toe gait miring ke depan panggul. Hilangnya lordosis saat duduk . DMD: Diagnosis Gower’s sign . DMD: Diagnosis Gaya berjalan Tdk adanya DTR Ober test Thomas test Meyerson sign Macroglossia Kerusakan Myocardial IQ ~ 80 Peningkatan CPK (200x) Perubahan Myopathic pd EMG Biopsi: m. degeneration Immunoblotting: Tdk adanya dystrophin Analisis mutasi DNA . Western blot Normal dystrophin bands (230kD) . . DMD: Riwayat perkembangan penyakit Perkembangan penyakit perlahan dan terus menerus Kelemahan otot Dari bawah -> ekstremitas atas Tidak dapat berjalan: pd usia 10 tahun (7-12) kematian akibat gagal jantung/paru : 20-30 thn . DMD: Treatment Prednisolone Dystrophin replacement Maintain function Physical Medicine and Rehabilitation (PMR) orthosis cardiopulmonary Tx Counselling . . .lanjutan Pembedahan Foot & ankle: melepas tendon Achillis & Tibialis posterior Knee: melepas tendon Yount & hamstring release Hip: Ober..DMD: Treatment .. modified Soutter procedure .... lanjutan An 8-yr-old boy Unable to stand Percut...DMD: Treatment . Tenotomy Achillis tendon Ambulate with orthosis ..... lanjutan Pembedahan Upper extremity: Spinal deformity: posterior spinal fusion + pelvis ..DMD: Treatment ...... Becker muscular dystrophy Peter Emil Becker (German doctor. 1950s) . Becker muscular dystrophy Lebih ringan dari DMD Etiology cacat tunggal gen Lengan pendek chromosome X Perubahan ukuran & penurunan jml dystrophin . Becker muscular dystrophy . BMD: Epidemiology Jarang 1: 30.000 kelahiran hidup laki-laki Tidak terlalu parah Riwayat keluarga: atipikal MD . BMD: Clinical manifestation Lebih ringan dibandingkan DMD Onset: usia> 7 tahun Pseudohipertrofi betis Equinous dan varus kaki Kebanyakan mengalami skoliosis Gangguan jantung lebih jarang . BMD: Diagnosis Sama dengan DMD Peningkatan CPK (<200x) Penurunan dystrophin dan atau b’kurangnya ukuran . BMD Riwayat penyakit Treatment perkembangan lebih lambat ambulasi sampai remaja harapan hidup lebih lama Sama dengan DMD Fore foot equinous: melepas plantar. midfoot dorsalwedge osteotomy . Emery-Dreifuss muscular dystrophy Etiology Epidemiology X-linked recessive Xq28 Emerin protein (in neuclear membrane) Male: typical phenotype/ dominan Female carrier: partial . EDMD: Clinical manifestation Kelemahan otot Contracture Neck extension. elbow (siku). tendon . EDMD: Clinical manifestation Umumnya scoliosis: perkembangan lambat Bradycardia. 1st degree AV block sudden death . cardiac abnormality 50-60 th: dpt berjalan Prognosis buruk pada obesitas. kontraktur equinus yg tdk diatasi.EDMD Diagnosis Riwayat penyakit Gower’s sign (tdk bs membungkuk) Mildly/moderately elevated CPK EMG: myopathic Normal dystrophin 10 thn pertama: kelemahan ringan Tahap lanjut: contracture. . EDMD: Treatment Physical therapy Prevent contracture: neck. posterior ankle capsulotomy + anterior transfer of tibialis posterior For curve > 40 degrees Cardiac pacemaker Soft tissue contracture Spinal stabilization Cardiologic intervention . paravertebral muscles For slow progress elbow flexion contracture Achillis lengthening. elbow. Limb-girdle muscular dystrophy Eitology Autosomal recessive at chromosome 15q Autosomal dominant at 5q Common More benign Epidemiology . Limb-girdle muscular dystrophy an absence of functional sarcoglycans components of the dystrophin glycoprotein complex (DCG). Other LGMD result from the absence of functional caveolin-3 Limb-girdle muscular dystrophy Clinical manifestation Onset usia: 30 thn an Mengenai otot pinggul – bahu LGMD Classification Diagnosis Pelvic girdle type common Scapulohumeral type rare Same clinical as DMD/BMD carriers Moderately elevated CPK Normal dystrophin . LGMD Natural history Treatment Slow progression After onset > 20 y: contracture & disability Rarely significant scoliosis Similar to DMD Scoliosis: mild. . no Rx. CNS involvement .Fascioscapulohumeral muscular dystrophy Etilogy Autosomal dominant Gene defect (FRG1) Chromosome 4q35 Female > male Clinical manifestation Epidemiology Age of onset: late childhood/ early adult No cardiac. FSMD: Clinical manifestation Muscle weakness face. upper arm Sparing Deltoid Distal pectoralis major Erector spinae . shoulder. “Popeye” appearance Lack of facial mobility Incomplete eye closure Pouting lips Transverse smile Absence of eye and forehead wrinkles . FSMD: Clinical manifestation Winging scapula Markedly decreased shoulder flexion & abduction Horizontal clavicles forward sloping Rare scoliosis . pelvic girdle.FSMD Diagnosis Treatment PE. shoulder m. muscle biopsy Normal serum CPK Slow progression Face. tibialis ant Good life expectancy Natural history Posterior scpulocostal fusion/ stabilization (scapuloplexy) . Distal muscular dystrophy Autosomal dominant trait Rare Dysferlin (mb prot) defect Age of onset: after 45 y . claves. tibialis posterior Spread proximally Normal sensation .Distal muscular dystrophy Initial involvement: intrinsic hands. Chromosome 14 Hereditary inclusion-body myositis Hereditary inclusion-body myuositis Distal myopathy with vocal cord & pharyngeal weakness .DD: Classification Welander distal myopathy Finnish/Markesbery distal myopathy Miyoshi distal myopathy Nonaka distal myopathy Gower: autosomal dominant. fugutin defect Laminin 2 chain merosin .Congenital muscular dystrophy Etiology Autosomal recessive Integrin. CMD: Epidemiology Rare Both male and female Classification Merosin-negative Merosin-positive Neuronal migration Fukuyama Muscle eye-brain Wlaker-Warburg . CMD: Clinical manifestation Stiffness of joint Congenital hip dislocation. subluxation Achillis tendon contracture. talipes equinovarus Scoliosis . CMD Diagnosis Treatment Muscle Bx: Perimysial and endomysial fibrosis Physical therapy Orthosis Soft tissue release Osteotomy . . gangguan citra tubuh.Nursing Diagnosis Gangguan mobilitas fisik Intoleransi aktivitas Risiko cedera Risiko gangguan integritas kulit Defisit perawatan diri Rendah diri. isolasi sosial. terapi okupasi. Edukasi klien dan anggota keluarga secara menyeluruh tentang hasil yang diharapkan dan kemungkinan munculnya masalah.Nursing Implications and interventions: Melibatkan multidisiplin. terapi psikososial. terapi wicara. Memperkuat teknik belajar di semua terapi di atas. . dan ahli diet. melibatkan terapi fisik. Nursing intervention. Pastikan alat bantu cocok untuk mencegah ulkus tekanan dan meningkatkan stabilitas. nyeri otot yang berlebihan.. dan sesak. Pastikan pasien memiliki peralatan (ortosis. lanjutan Mendorong pasien utk latihan Ingatkan saat latihan berlebihan: merasa lemah dari setelah latihan. .. Libatkan kelompok-kelompok pendukung. kursi roda.. Peka terhadap kebutuhan psikososial dan melaksanakan rujukan yang tepat.. kram otot parah. eye At/ after birth Both Unknown Generalized Proximal - . quad DD Rare/ sangat jarang 20-77 y Either sex AD Distal CMD Rare Age of onset 3-6 y Sex Inheritance Muscle involve. larynx. arm. calf FSMD Not common 2nd decade M=F AD Face & shoulder to pelvic Back ext. Muscle spread until late Male Sex-linked recessive Proximal to distal Leg. rare AD Proximal to distal Upper ex. hand.Summary Clinical Incidence DMD Common/ sering LGMD Less/ kurang 2nd decade Either sex AR. face. hip abd. late Very rare DD no Mild. rapid LGMD < 33% Late Late Very rare/ jarang Normal Slow FSMD Rare Mild.Summary Clinical Pseudo hypertrophy Contracture Scoliosis Kyphoscoliosis Heart DMD 80% calf Common Common. late Hypertrophy tachycardia decrease Stead. late Very rare CMD No Severe ? Not observed ? Steady Intellectual Course Normal Insidious Normal benign . Thank you .
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