Neuromuscular, Neurocutaneous, and spinal cord diseases Flashcards Preview

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Flashcards in Neuromuscular, Neurocutaneous, and spinal cord diseases Deck (46)
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1

What is pathophysiology of myasthenia gravis

Autoantibodies against nicotinic acetylcholine receptors at NMJ junction, fatigue through day, better with rest

2

What is the most common and most common initial symptoms, and what can it be limited to in elderly ppl for myasthenia gravis

Extraocular eye muscles, with ptosis, diplopia, and blurred vision

3

What goes weak and what is preserved in myasthenia gravis

Skeletal muscles weak, sensation and reflexes preserved

4

How are limb muscles affected in myasthenia gravis

Proximal and Asymmetric

5

Other symptoms of myasthenia gravis besides eye symptoms

Dysarthria, dysphagia, and generalized weakness

6

What is myasthenia crisis and what percent of patients does it occur in?

An exacerbation of myasthenia gravis with respiratory muscles affected, requiring intubation15%

7

Four diagnostic modalities of myasthenia gravis

1.) Acetylcholine antibody test - specific, 20% beat it
2.) EMG - shows decremental conduction of motor nerves
3.) Edrophonium test - acetylcholine esterase inhibitor, improves symptoms but not used
4.) CT to see if thymoma is present - 75% have abnormal histology, 15% have actual thymoma

8

Treatment for myasthenia gravis (Five things)

1.) AChE inhibitor - symptoms only - pyridostigmine
2.) Thymectomy - symptoms and remission, do even when there is no thymoma
3.) Immunosuppressive drugs - corticosteroids second line, azathioprine and cyclosporine third line
4.) Plasmapharesis - removes antibodies, last resort
5.) IV immunoglobulins - myasthenia crisis

9

What is the forced vital capacity indication for intubation for patients with myasthenia gravis

Less than 15ml/kg, unless crisis, in which case do not wait

10

Where are lambert-eaton's autoantibodies directed towards

Presynaptic calcium channels

11

Difference between symptoms of myasthenia gravis and lambert eaton

Lambert Eaton - improves with stimulation, hyporeflexia

Myasthenia Gravis - diminishes with stimulation, reflexes preserved

12

What cancer is lambert-eaton associated with

Small cell lung cancer

13

Gene mutation and result of duchenne's mulscular dystrophy

X-linked recessive - no dystrophin, no inflammation

14

Progression of muscular weakness in duchenne's muscular dystrophy

Starts proximal and symmetric in children (pelvis girdle), progresses distally

15

Two distinguishing features of duchenne's muscular dystrophy

1.) Gower's maneuver - Patients use hands to get up
2.) Enlarged calf muscles - first true hypertrophy, then pseudohypertrophy as fat replaces muscle

16

Final complications of duchenne's muscular dystrophy

Wheelchair bound, respiratory failure, and death in third decade

17

What diagnostic lab is distinguished in duchenne's, and what can you use to test for duchenne's

Serum creatinine phosphokinase

Definitive: DNA testing

18

What is the treatment used for duchenne's muscular dystrophy

Prednisone - 5 years and older with declining motor skills

Surgery - fixes scoliosis, once wheelchair bound

19

Similaries and differences for becker's muscular dystrophy vs. duchenne's muscular dystrophy

X-linked recessive too, less common, later onset and less severe because some dystrophin present

20

What two other hereditary diseases can cause muscle weakness

Mitochondrial disorders: Ragged red muscle fibers

Glycogen storage diseases: Mcardle's - muscle cramping after exercise because no glycogen phosphorylase

21

What three things can exacerbate myasthenia gravis

1.) Beta blockers
2.) Antibiotics - aminoglycosides and tetracyclines
3.) Antiarrhythmics - quinidine, procainamide, and lidocaine

22

What are the genetics of neurofibromatosis type 1

Autosomal dominant

23

What are the clinical features of neurofibromatosis type 1

1.) Cafe au lait spots - pigmented spots
2.) Neurofibromas - benign tumors of nerve sheath - treat by surgery
3.) CNS tumors - gliomas, meningiomas
4.) Axillary or inguinal freckling
5.) Lisch nodules - iris hamartomas (dendritic melanocytes in iris)
6.) Bony lesions

24

What are the complications of neurofibromatosis type 1

1.) Scoliosis
2.) Pheochromocytoma
3.) optic nerve glioma
4.) Renal artery stenosis
5.) Bone erosion

25

What are the clinical features of neurofibromatosis type 2

1.) Bilateral acoustic neuromas - classic
2.) Multiple meningiomas
3.) Cafe au lait spots
4.) Neurofibromas
5.) Cataracts

26

What are the clinical features of tuberous sclerosis

1.) Cognitive impairment
2.) Epilepsy
3.) Skin lesions (angiofibromas - papules with fibrous tissue, adenoma sebaceum)

27

What are the complications of tuberous sclerosis

1.) Retinal hamartoma - can lead to retinal detachment
2.) Renal angiomyolipoma - could hemorrhage
3.) Rhabdomyoma

28

What is Sturge-Weber syndrome classic visible features

Facial vascular nevi (port wine stain), epilepsy, mental retardation

29

What should you treat in sturge weber syndrome

Epilepsy

30

What is the see pathologic feature of sturge-weber syndrome

Capillary angiomatoses of pia mater - knots of capillaries