Pathologies/Diseases of Musculoskeletal

Question 1

Synovial effusions

Answer 1

abnormal increase in synovial fluid volume abnormal mechanical stimulation causes HA to be produced, excess HA increased oncotic pressure and volume in synovitis due to inflammation, the effusion is inflammatory exudate

Question 1

Osteoarthritis

Answer 1

chronic, slowly progressive disorder due to failure of articular cartilage that typically affects joints of hands, spine and weight bearing joints elderly, insidious onset over years, mechanical pain that worsens with activity, bony swelling and progressive decrease in range of movement decrease in proteoglycans within the cartilage

Question 3

Ehler’s-Danlos Syndrome

Answer 3

joint and tissue laxity and arterial wall abnormality due to abnormal collagen synthesis have joint hypermobility and shin fragility

Question 4

Marfan’s Syndrome

Answer 4

autosomal dominant muration in fibrillin 1 ocular, skeletal, vascular, lung and skin abnormalities tall stature, long and thin extremities, common to have ascending aortic dissection of mitral valve prolapse

Question 4

Limb-gridle Muscular Dystrophies (LGMD)

Answer 4

autosomal, increase in CPK, broad spectrum of diseases

Question 5

Osteogenesis Imperfecta

Answer 5

‘brittle bone’, autosomal dominant type 1:mild, bone fragility, short stature type 2: lethal in utero type 3: severe deformity type 4: moderate deformity

Question 6

Common characteristic of muscle myopathies

Answer 6

abnormal energy production

Question 7

Duchenne muscular dystrophy

Answer 7

X-Linked symptoms develop before the age of 6, progressive weakness, initially in the pelvis and legs. Become wheelchair bound by the time they become teenagers. Death normally in late teens, early 20s due to complications following respiratory muscle weakness/insufficiency caused by a mutation in DMD gene, doesn’t protect sarcolemma from contraction-induced injury will have Gower’s sign, and increased CPK can be associated with mental retardation

Question 9

Systemic Sclerosis

Answer 9

thickening and firbosis of the skin

Question 10

Common characteristic of muscle dystrophies

Answer 10

inherited, characterized by muscle wasting and weakness

Question 11

Myophophorylase deficiency

Answer 11

presents with cramps and myogloburia following exercise autosomal recessive, a stop codon leads to a lack of protein expression have subsarcolemmal vacuoles and glycogen accumulation as they have to utilize ATP in other ways

Question 12

Strickler’

Answer 12

type II collagen mutation ocular/joint disease

Question 12

Becker’s muscular dystrophy

Answer 12

an inframe mutation of the dystropin gene which leads to a partial expression or a truncated but functioning protein. hypertrophic proximal weakness and cardio myopathy get malignant hyperthermia following exposure to muscle relaxants and inhaled (halogenated) anesthetics. This is because a mutation in calcium channel lead to them being permanently open

Question 13

Lipid Storage Myopathies

Answer 13

results from a defect of transport or beta oxidation or endogenous triglyceride catabolism

Question 14

Acid Maltase deficency

Answer 14

lysosomal storage disorder, which results in abnormal glycogen deposits in other organs muscle weakness, respiratory impairment and can be extremely severe in infants (Vascular myopathies)

Question 15

Rhematoid Arthritis

Answer 15

chronic autoimmune disease characterised by pain, stiffness and symmetrical synovitis(inflammation of synovial membrane) begins as periartubular erosion and later progresses to whole joint rhematoid factos: antibodies that recognize the Fc portion of IgG as their target antigen. The presence of Anti-CCP antibodies and RF is high suggestive of diagnosis the important role of cytokine TNF-alpha in controlling the progression of the disease is why infliximab (anti-TNF-a) is used

Question 16

Epidermolysis Bullosa

Answer 16

type IV collagen mutation skin problems

Question 17

Alports

Answer 17

type IV collagen mutation glomerulonephritis and deafness

Question 17

Osteoporosis

Answer 17

low bone mass, micro-architecture deterioration, fragility and fractures age associated due to a decrease in vitamin D synthesis and reduced Ca+2 (increase in PTH) can be secondary to endocrine or nutritional problems

Question 19

Mitochondrial Myopathies

Answer 19

maternal inheritance, multi-system, high lactate, impairment of a respiratory chain enzyme

Question 21

Glucocorticoid Induced Osteoporosis

Answer 21

rapid bone loss over the first year, then the progression slows decrease in osteoblastgenesis and increase in apoptosis decrease in osteoclast genesis but increase in survival use anti-resorptives as a treatment

Question 22

Pagent’s Disease of Bone

Answer 22

localized disorder of bone remodelling ostetoclast increase in number ostoblast become disorganized and leads to rapid bone formation, which is replaced by sclerotic bone bone marrow is replaced by vascular fibrous connective tissues

Question 23

Systemic Lupus Erythematous

Answer 23

chronic autoimmune disease, principally affecting jointsand skin, but also affects lungs, kidneys and haematology

fatigue, fever, myalgias, oral ulcers, butterfly rash, vasculitis, glomerulonephritis, peripheral neuropathoies, peri, endo and myocarditis

positive anti nuclear antibody test

genetic factors increase B cell reactivity so that it can directly result in auto antibody production and end organ damage

Question 24

Limited Cutaneous Systemic Sclerosis

Answer 24

prototypic fibrotic disease

cutaneous sclerosis on face and extremities

associated wtih vascualr ulceration and infarction

Question 25

Reactive Arthritis

Answer 25

sterile inflammatory synovitis following an infection with extra-articular manifestations seronegative spondyloarthropathies associated with urogenital and enerogenic infections, appearing 1-4 weeks following infection lower limb enthestis (heel pain, swollen fingers, painful feet), occular inflammation anti-inflammatories+/- corticosteroids