Mm/Nn/Bone Buzzin Flashcards
anti-mi2 abs
dermatomyositis
perifascicular atrophy
myofiber atrophy at edges of fascicles = dermatomyositis
campylobacter infection
GB
ascending paralysis/areflexia and infection
GB
onion bulb neuorpathy
chronic inflammatory demyelinating polyneuropathy
sexual dysfunction, tingling hands
DM
distal symmetric neuropathy, renal failure
uremic neuropathy
foot looks like its in a high heel
CMT - inherited peripheral neuropathy - mm. atrophy, sensory loss, foot deformities
painless weakness, thymom
MG
extremity weakness, neuroendocrine carcinoma
LEMS
mm. effect from corticosteroids
type II atrophy
heliotrope rash
dermatomyositis - proximal mm. weakness first - perifascicular atrophy
proximal mm. weakness first?
think dermatomyositis or polymyositis
endomysial inflamm. cells in mm?
polymyositis
quad weakness, age 70
inclusion body myositis
drug given for high cholesterol
= statin
- worry about myopathy!!!
dystrophin gene
completely gone in duchene
reduced in becker’s muscular dystrophy
on x chromosome
walking delayed
see atrophic myofibers, variation in mm. size, fatty replacement!!!
sustained mm. contractions
myotonic dystrophy - skeletal mm. weakness, cataracts, endocrinopathy, cardiomyopathy
CTG triplet repeats
glucose accum. in mm. cells
mcArdles disease - glycogen storage disease
ragged red fibers
mitochondrial myopathies
schwanomma
loss of merlin gene
cause sx by local compression: CPA –> problems with eigth nerve = acoustic neuroma
neurofibroma
have schwannoma (perineural) components but also fibroblasts, mast cells and spindle cells
superficial cutaneous = pedunculated
diffuse neurofibromas = plaque like
MPNST
malignant peripheral nerve sheath tumor - 1/2 arise in NF1 pts. d/t transformation of plexiform neurofibroma
HOXD13
brachydactylyl - short boroad terminal phalanges of first digits
FGFR3 mutation
achondrolplasia = short stature, short limbs, frontal bossing
COL1A1 mutation
osteogeneisis imperfecta –> bone fragility
“brittle bone disease” problem w/ type 1 collagen
poor teeth, blue sclera, fractures
marble bone diseease
prob. w/ metabolic pathway –> bad fn. in osteoclasts = oste0petrosis
chalky bones w/ earl myer flask shape
see anemia, thrombocytopenia, leukopenia
d/t CA2 mutation = no carbonic anydrase = inability for osteoclasts to produce acidic environment
osteopenia
idiopathic, postmenopause, hypothyroid overtreatment (too much T4)
cement lines
paget disease = overworking osteoclasts, osteoblasts can’t keep up
see mosaic pattern of lamellar bone = “cement lines”
pain in affected bone, d/t microfractures, increased heat
“saber bone”
increased risk of sarcoma
rosary, no vit D
rickets in kids, osteomalacia in adults
dissecting osteitis
hyperPTH - “brown tumor”
most commonly PTH adenoma
chronic renal failure
- uremic neuropathy = distal, symm. neuropathy
2. renal osteodystrophy = d/t acidosis –> osteopenia ; no vit D –> osteomalacia
too much corticosteroids?
- type II mm. atrophy
- avascular necrosis/ osteonecrosis
- w/ avascular necrosis see saponification and the head of the femur looks yellow