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1

normal at birth and early milestones are met.

X-linked Muscular Dystrophy (Duchenne & Becker MD)

2

• ↑ CSF protein d/t inflamm and altered permeability of spinal root microcirculation traversing the subarachnoid space.
• Little/absent CSF pleocytosis

Guillain-Barre Syndrome

3

Droppy eyelid, blurred/double vision, slurred speech, difficulty chewing/swallowing, weakness, fatigue, difficulty breathing.

myasthenia gravis

4

Immunohistochemical: reduced staining

Becker MD

5

Opthalmopegia, pigmentary degeneration of the retina, and complete heart block.

Kearns-Sayre syndrome of mito myopathy

6

Pulmonary lymphangioleiomyomatosis

Tuberous Sclerosis

7

anti-hu antb's

small cell (neuroendocrine) lung CA --> paraneoplastic sensorimotor neuropathy

8

Cardiac rhabdomyomas

Tuberous Sclerosis

9

epilepsy, migraine, mvmt disorder w cerebellar dysf, peripheral n. Dz, mm. Dz.

Ion Channel Myopathies (channelopathies)

10

Generalized glycogenesis of infancy (Pompe dz)

severe Acid maltase deficiency

11

Proximal mm. affected first (getting up from chair, climbing staris = difficult; Fine movements affected late in the dz.

dermatomyositis

12

Pseudohypertrophy of the LE mm. assoc w weakness.

X-linked Muscular Dystrophy (Duchenne & Becker MD)

13

NS involvement that can lead to mental retardation.

X-linked Muscular Dystrophy (Duchenne & Becker MD)

14

 Mental retardation or seizures.
 Skeletal defects.
 Lisch nodules: pigmented nodules of the iris.
 Café-au-lait spots: macular cutaneous hyperpigmentation.

NF1

15

Gower sign: starts walking up own legs to get up

X-linked Muscular Dystrophy (Duchenne & Becker MD)

16

Cutaneous lesions include angiofibromas, localized leathery thickenings (shagreen patches), hypopigmented areas (ash-leaf patches), and subungual fibromas

Tuberous Sclerosis

17

Numbness + tingling of the thumb and first 2 digits

carpal tunnel synd

18

mm. cramps, distal dysesthesias, ↓ DTRs.

neuropathy from uremia

19

slowly progressive humoerperoneal weakness, cardiomyopathy (conduction defects), early contractures of achilles tendon, spine, elbows.

Emery-dreifuss Muscular Dystrophy (EMD)

20

Immunohistochemical: absence of the normal sarcolemmal staining pattern

Duchenne MD

21

ascending paralysis and arreflexia

Guillain-Barre Syndrome

22

 degen lower brainstem and anterior horn cells
 --> m weakness of the truncal and extremity muscles initially, followed by chewing, swallowing and breathing difficulties
 Weakness before 6mo = can never sit independently
 If prob suckling/swallow = gravest prog
 Abd breathing in 1st few mos
 Tongue twitching
 Usu die before 2yo

Werdnig-Hoffmann Dis (SMA1)

23

leonine facies

tuberculoid leprosy

24

facial drop, facial tingling, moderate-severe HA/neck pain, memory prbs, balance prbs, ipsl limb weakness, clumsiness

bells palsy

25

deposition of complement MAC (C5b-9) in capillary beds of mm. and skin

dermatomyositis

26

Telangiectasias in the nail folds, eyelids, gums and as dropout of capillary vessels in skeletal mm.

dermatomyositis

27

Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (hyperpigment, increased hair)

POEMS syndrome: IgM paraproteins bind directly to myelin assoc Ag's (ie. Myelin associated glycoprotein (MAG)

28

develop joint contracture, scoliosis, worsening resp. reserve and sleep hypoventilation.

X-linked Muscular Dystrophy (Duchenne & Becker MD)

29

 Slowly progressive mm. weakness most severe in the quadriceps and distal UE mm.
 Dysphagia
 Trouble walking up stairs, problems with extensors.

Inclusion Body Myositis

30

Walking may be delayed, wheelchair dependent by 9.5yo

X-linked Muscular Dystrophy (Duchenne & Becker MD)