Neuromuscular Disease

Question 1

Autoimmune disease usually presenting in women between the ages of 20 and 40; symptoms include ptosis, diplopia, and general muscle fatigability

Answer 1

Myasthenia gravis

Question 2

X-linked recessive disorder of dystrophin

Answer 2

Duchenne’s muscular dystrophy and Becker muscular dystrophy (milder)

Question 3

Neuromuscular disease classically seen w/ small cell lung cancer

Answer 3

Eaton-Lambert syndrome

Question 4

Neuromuscular disease with marked weakness following seizure activity

Answer 4

Todd’s postictal paralysis

Question 5

Autosomal dominant presenting between the ages of 7 and 20; affects the face and shoulder girdle; normal life expectancy

Answer 5

Fascioscapulohumeral dystrophy

Question 6

Most common type of muscular dystrophy

Answer 6

Duchenne’s muscular dystrophy

Question 7

Neuromuscular disease that begins in adulthood; affects the pelvic and shoulder muscles

Answer 7

Limb-girdle dystrophy

Question 8

Neuromuscular disease related to destruction of acetylcholine receptors

Answer 8

Myasthenia gravis

Question 9

Neuromuscular disease that may be associated with thymomas

Answer 9

Myasthenia gravis

Question 10

Neuromuscular disease that is passed from mother to offspring; “ragged red fibers” on muscle biopsy

Answer 10

Mitochondrial myopathies

Question 11

Muscle weakness, sparing of extraocular muscles; related to impaired release of acetylcholine

Answer 11

Eaton-Lambert syndrome

Question 12

Autosomal recessive glycogen storage disease that typically presents with cramping after exercise due to lactic acid buildup

Answer 12

McArdle disease

Question 13

Weakness worsens after repetitive use of muscles, but improves after injection of edrophonium.

Answer 13

Myasthenia gravis

Question 14

Weakness, myalgia, eosinophilia; history of consuming undercooked pork

Answer 14

Trichinosis

Question 15

Muscle spasms (including facial muscles), trismus, opisthotonos, autonomic dysfunction

Answer 15

Tetanus

Question 16

Idiopathic, acute, peripheral facial weakness

Answer 16

Bell’s palsy

Question 17

Autosomal recessive, “floppy infant,” delayed milestones, progressive atrophy, dysphagia

Answer 17

Werdnig-Hoffmann (type 1 proximal spinal muscular atrophy)

Question 18

Weakness worsens after injection of edrophonium; miosis, urinary urgency, and diarrhea may be present.

Answer 18

Organophosphate poisoning

Question 19

Elevated levels of creatine phosphokinase, pseudohypertrophy of calves, lower than normal IQ

Answer 19

Duchenne’s muscular dystrophy

Question 20

Neuromuscular disease that weakness improves after repetitive muscular stimulation.

Answer 20

Eaton-Lambert syndrome

Question 21

Autosomal dominant Neuromuscular disease usually presenting between the ages of 20 and 30; inability to relax the grip or release a handshake

Answer 21

Myotonic dystrophy