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