REVIEW OF MUSCULOSKELETAL SYTEM
Biochemistry of Bone Cartilage & Muscle
Standar Kompetensi DokterPermasalahan / Keluhan: Nyeri sendi Sakit punggung Nyeri Pinggang Nyeri otot Bengkak Sendi (Kaku,bengkak, kelainan bentuk Gerakan terbatas Patah tulang, dll
Standar kompetensi DokterDAFTAR PENYAKIT : Duchene muscular Dystrophy 1 Arthritis 4 Marfan Syndrom 1 Osteogenesis imperfecta 1 Achondroplasia 1 Rheumatoid Arthritis 2 Osteoporosis 3A Rikets, Osteomalacia 1 Gout 3 A ,dll
ACHONDROPLASIA
DUCHENNE MUSCULAR DYSTROPHY
Duchenne Muscular Dystrophy A severe recessive X-linked
Rapid progression of muscle degeneration Eventually loss of ambulation death Prevalent is one in 4000 males In general male. Carriers female Female if father & mather affected Mutation in the dystrophin gene Xp 21 codes for the protein dystrophin
structure stability to dystroglycan complex (DGC) located on the cell membrane
Duchenne Muscular Dystrophy Symptoms:
Appear in male, before age 5 Progressive proximal muscle weakness of the
legs & pelvis loss of muscle mass first Early sign s pseudohypertrophy, low
undurance Last : muscle tissue wasting fibrosis By age 10 aid in walking wheelchair by age
12 Late symptoms: skeletal deformities,
intelectual impairment Surviving teens to mild 20s, rare age 40 th
MARFAN SYNDROME Genetic disorder off connectic tissue
(fibrilin-1) Unussually tall with long limbs & long
thin finger Dominant gen FBN1 Defects on the heart valve & aorta,
lung,eyes,spinal.skeleton & hard palate Indicate 1/ 3000 -5000,1/20.000 birth Long limbs, dislocated lenses, aortic
root dilation,arachnodactily
Myasthenia Gravis An autoimmune neuromuscular disease Fluctuating muscle weakness &
fatiguability Weakness is caused by circulating antibody
block Ach reseptor at post synaptiv NMJ Inhibiting the stimulate effect of the NT Ach Incidence 3- 30 cases / million R/ cholinesterase inhibitors or
immunosuppressants But not response to Cong.myasthenic synd.
Myasthenia Gravis
Sign & Symptoms
Muscle become progressively weakness during activity & improve after periods of rest
Eye &eyelid movement, facial expressions, chewing, talking & swallowing
The onset sudden, Often symtoms are intermittent
OSTEOGENESIS IMPERFECTA
Called = Brittle bone disease substaining multiple broken bones in child
Causes a defect in the production of collagen type I
Type I collagen is found in bone, sclera, ligament & teeth
It’s a dominant mutation Is due a genetic mutation in the gene to
produce Collagen
OSTEOGENESIS IMPERFECTA
Signs & Symptoms Bone fragility, scoliosis Tooth defect, loose ligaments Bluish sclera, hearing deficits Dll
R/: Biphosphanates & Ca suplements R/ genetic & Growth Hormon
Regulation of Calcium Homeostasis
COMPARISON OF TWO TYPES OF DENSE CONNECTIVE TISSUE � BONE & CARTILAGE
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Characteristics Cartilage Bone
Mechanical properties
Rigid but flexible Hard and strong
Cell type Chondrocytes Osteocytes
Composition of Matrix
Chondroitin sulfate
Hydroxyapatite
Vascularization Avascular Vascular
Innervation No Yes
Covering Perichondrium Periosteum
1.Yang berfungsi menurunkan absorpsi kalsium di usus halus adalah:a. Kalsitonin c. Kalsitriolb.Vit D d. PTH e.ADH2.Komponen utama tulang terdiri atas :a.Kolagen tipe I dan Ca Hidroksiapatit b Kolagen tipe I dan Ca Hidroksiapatitc.Kolagen tipe III dan Ca Hidroksiapatitd.Kolagen tipe IV dan Ca Hidroksiapatite.kolafen tipe II dan Proteoglikan3.Tempat simpanan dinamis Kalsium di tubuh kita adalah :a. Otak c. Otot e.Tulang b, Hati e. Usus halus
TERIMA KASIH