Myopathy 03

download Myopathy 03

of 19

  • date post

    30-Jan-2016
  • Category

    Documents

  • view

    220
  • download

    0

Embed Size (px)

description

Myopathy 03

Transcript of Myopathy 03

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineMyopathy(Muscle Disease)Anwar Wardy W*

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineEtiology of muscle diseaseshereditaryautoimmunesystemic diseasetoxicinfectious

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineMuscular dystrophieschildhood disorders with progressive muscle weaknessrecessive inheritance,many de novo mutations Gowers sign

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineX-linked muscular dystrophiesDuchenne (DMD) - small children, Becker (BMD) - young adultsfrequent new mutationsfrequent disease: 1:3000 male childbirths same molecular defectdystrophin is a major protein of the normal muscle membrane (sarcolemma)dystrophin is absent in Duchenne, underdeveloped in Becker

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineSarcoglycanopathies(Limb girdle muscular dystrophies)LGMD1A5qmyotilinLGMD1B1qlaminLGMD2A15qcalpainLGMD2B2pdysferlinLGMD2C13q-sarcoglycanLGMD2D17q-sarcoglycanLGMD2E4q-sarcoglycanLGMD2F5q-sarcoglycan

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineSimilar phenotype in sarcoglycanopathies

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineDystrophin-sarcoglycan complex

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic Medicine NormalDuchenne-SGpathy Dystrophin-dystroglycan-sarcoglycan-sarcoglycan-sarcoglycan-sarcoglycanutrophinImmunfluorescence staining

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineMyotonic dystrophiesDM1autosomal dominantexpansion of trinucleotide repeat on chromosome 19qnormal individuals have 5-35 repeats, patients have 50-2000 repeatscorrelation between number of repeats severity of diseaseassociated with systemic abnormalities

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineMyotonic dystrophiesPROMM (DM2)autosomal dominantchromosome 3qgene not yet identified

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineMuscle channelopathiesChlorideMyotonia congenitaSodiumPeriodic paralysisParamyotonia congenitaCalciumPeriodic paralysisMalignant hyperthermiaPotassiumPeriodic paralysis

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineInflammatory myopathiesPolymyositis / dermatomyositischaracterized by subacute progressive muscular weaknessdermatomyositis: humorally mediatedpolymyositis: cell-mediated immune processantigen not known

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineSpinal muscular atrophyautosomal recessive disorderIncidence: 1 in 6000 births (second most frequent autosomal recessive disease of childhood)progressive muscle weakness due to degeneration of motor neurons in the spinal cordGene: SMN (survival motor neuron) mutations or deletions in 95% of patientsSMN protein promotes axon growth and maturation

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineNormal SMN geneLarge inverted duplicationTelomeric and centromeric copies

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineSMN defectsSMA I 2-3 copies of SMN2Werdnig-HoffmanSMA II 3 copies of SMN2SMA III 4-8 copies of SMN2Kugelberg-WelanderDeletion of SMN1Conversion to SMN2

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineAmyotrophic lateral sclerosisadult degenerative motor neuron disease affecting upper and lower motor neurons with rapid progression

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineAmyotrophic lateral sclerosis10% are familial (autosomal dominant20% of familial cases have mutations in the SOD 1 (superoxide dismutase) geneon chromosome 21qthe mutation causes a toxic gain of function of the proteinexcess of glutamate

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineBe a good doctor!

    *Neurologist, Dipl.Forensic Medicine

  • Kuliah April 2008.FKK-UMJ*Neurologist, Dipl.Forensic MedicineThank UWassalam, Wr, Wbr

    *Neurologist, Dipl.Forensic Medicine

    ************