27 ss/look like to doc

Question 1

normal at birth and early milestones are met.

Answer 1

X-linked Muscular Dystrophy (Duchenne & Becker MD)

Question 2

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

Answer 2

Guillain-Barre Syndrome

Question 3

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

Answer 3

myasthenia gravis

Question 4

Immunohistochemical: reduced staining

Answer 4

Becker MD

Question 5

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

Answer 5

Kearns-Sayre syndrome of mito myopathy

Question 6

Pulmonary lymphangioleiomyomatosis

Answer 6

Tuberous Sclerosis

Question 7

anti-hu antb’s

Answer 7

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

Question 8

Cardiac rhabdomyomas

Answer 8

Tuberous Sclerosis

Question 9

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

Answer 9

Ion Channel Myopathies (channelopathies)

Question 10

Generalized glycogenesis of infancy (Pompe dz)

Answer 10

severe Acid maltase deficiency

Question 11

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

Answer 11

dermatomyositis

Question 12

Pseudohypertrophy of the LE mm. assoc w weakness.

Answer 12

X-linked Muscular Dystrophy (Duchenne & Becker MD)

Question 13

NS involvement that can lead to mental retardation.

Answer 13

X-linked Muscular Dystrophy (Duchenne & Becker MD)

Question 14

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

Answer 14

NF1

Question 15

Gower sign: starts walking up own legs to get up

Answer 15

X-linked Muscular Dystrophy (Duchenne & Becker MD)

Question 16

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

Answer 16

Tuberous Sclerosis

Question 17

Numbness + tingling of the thumb and first 2 digits

Answer 17

carpal tunnel synd

Question 18

mm. cramps, distal dysesthesias, ↓ DTRs.

Answer 18

neuropathy from uremia

Question 19

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

Answer 19

Emery-dreifuss Muscular Dystrophy (EMD)

Question 20

Immunohistochemical: absence of the normal sarcolemmal staining pattern

Answer 20

Duchenne MD

Question 21

ascending paralysis and arreflexia

Answer 21

Guillain-Barre Syndrome

Question 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

Answer 22

Werdnig-Hoffmann Dis (SMA1)

Question 23

leonine facies

Answer 23

tuberculoid leprosy

Question 24

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

Answer 24

bells palsy

Question 25

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

Answer 25

dermatomyositis

Question 26

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

Answer 26

dermatomyositis

Question 27

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

Answer 27

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

Question 28

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

Answer 28

X-linked Muscular Dystrophy (Duchenne & Becker MD)

Question 29

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

Answer 29

Inclusion Body Myositis

Question 30

Walking may be delayed, wheelchair dependent by 9.5yo

Answer 30

X-linked Muscular Dystrophy (Duchenne & Becker MD)

Question 31

Brain tubers, hamartomas

Answer 31

Tuberous Sclerosis

Question 32

weakness that worsens w exertion

Answer 32

myasthenia gravis

Question 33

Hypotonia, proximal contractures, distal hyperextensibility.

Answer 33

Ullrich Congenital MD (UCMD)

Question 34

s/s d/t the CN its compressing

Answer 34

schwannoma

Question 35

Progressive, adult onset myopathy involving resp. and truncal mm

Answer 35

mild Acid maltase deficiency

Question 36

Dysphagia d/t oropharyngeal and esophageal muscles

Answer 36

dermatomyositis

Question 37

Weakness begins in the pelvic girdle and progresses to shoulder girdle

Answer 37

X-linked Muscular Dystrophy (Duchenne & Becker MD)

Question 38

onion bulb formation (palp enlarged n)

Answer 38

Hereditary motor and sensory neuropathies/Charcot-Marie-Tooth Disease (CMT)

Question 39

Rash: lilac colored discoloration of the upper eyelids (heliotrope rash) and periorbital edema.

Answer 39

dermatomyositis

Question 40

less severe; more localized n involvement; inflamm damages n in vicinity

Answer 40

tuberculoid leprosy

Question 41

Poor mm. tone, external eye mm. weakness, breathing difficulties in perinatal pd

Answer 41

Congenital Myasthenic Syndromes

Question 42

anti-cN1A.

Answer 42

Inclusion Body Myositis

Question 43

 Destruction of anterior horn large motor neurons or CN motor nuclei.  No intranuclear inclusions of the peripheral n. system.

Answer 43

peripheral neuropathy d/t varicella zoster

Question 44

Not respond to steroids or immunosuppressive drugs

Answer 44

Inclusion Body Myositis

Question 45

Subacute necrotizing encephalopathy.

Answer 45

Leigh Syndrome of mito myopathy

Question 46

clumsiness, unable to keep up with peers.

Answer 46

X-linked Muscular Dystrophy (Duchenne & Becker MD)

Question 47

numbness/loss pain sensation, balance probs --> foot/ankle fx/skin ulcers

Answer 47

PNS dysf from DM

Question 48

symmetric neuropathy, more severe in ext and face

Answer 48

leptomatous leprosy

Question 49

distal mm. atrophy, sensory loss, foot deformities

Answer 49

Hereditary motor and sensory neuropathies/Charcot-Marie-Tooth Disease (CMT)

Question 50

increased m respose w repeated stimulation

Answer 50

Lambert-Eaton Myasthenic Syndrome

Question 51

Transient motor and sensory mononeuropathies triggered by compression of individual nn. at sites prone to entrapment (carpal tunnel, fibular head)

Answer 51

Hereditary Neuropathy with Pressure Palsy

Question 52

prominent weakness of the facial mm. and mm. of the shoulder girdle.

Answer 52

Fascioscapulohumeral Dystrophy

Question 53

 B/l CNVIII schwannomas and multiple meningiomas. |  Gliomas (ependymomas of the spinal cord) can also occur.

Answer 53

NF2

Question 54

Symmetrical, mixed, sensorimotor polyneuropathy that lasts for 2+ months: present earlier w waxing and waning

Answer 54

Chronic Inflamm. Demyelinating Poly(radiculo)neuropathy

Question 55

Adult onset inflamm myopathy with myalgia and symmetric, proximal weakness.

Answer 55

polymyositis

Question 56

Anti-CV2 Ab's (to CRMP5)

Answer 56

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

Question 57

Gottron papules: scaling erythematous eruption/dusky red patches over knuckles, elbows, knees

Answer 57

dermatomyositis

Question 58

Interstitial lung dz (10%) → death (rapidly progressive).

Answer 58

dermatomyositis

Question 59

Postural hypotension, incomplete bladder emptying, sexual dysfunction.

Answer 59

PNS dysf from DM

Question 60

Symmetric, slow onset of mm. weakness

Answer 60

dermatomyositis

Question 61

Renal angiomyolipomas

Answer 61

Tuberous Sclerosis