NMJ Disorders

Question 1

Neuromuscular disorders are characterized by

___ weakness.

Answer 1

insidious, slowly progressive

Question 2

Proximal weakness is characteristic of ___ while distal is characteristic of ___, and facial weakness is characteristic of ___

Answer 2

muscle disorders, neuropathy, cranial disorders

Question 3

Muscle necrosis can be diagnosed by ordering ___; the highest levels are seen in ___

Answer 3

creatinine kinase; myoglobinuria

Question 4

Charcot Marie Tooth disease is a ___ (broad classification)

Answer 4

hereditary polyneuropathy

Question 5

___ are seen in about 30% of AMLS patients

Answer 5

Cognitive defects, eg speech issues

Question 6

ALS is characterized by ___ resulting from degeneration of brainstem and spinal cord lower motor neurons

Answer 6

progressive weakness and wasting

Question 7

ALS is characterized by progressive weakness and wasting resulting from degeneration of ___

Answer 7

brainstem and spinal cord lower motor neurons

Question 8

ALS is characterized by progressive weakness and wasting resulting from ___ of brainstem and spinal cord lower motor neurons

Answer 8

degeneration

Question 9

___ muscles are often spared in ALS

Answer 9

Extraocular and facial

Question 10

___ (medication) has been shown to slow the progression of ALS slightly and extend life for 3 month

Answer 10

Riluzole

Question 11

CMT 1 and 2 are differentiated based on the speed of ___ and the degeneration of ___ vs ___

CMT can be divided into one group with
slow nerve conduction velocities (NCVs) and pathological evidence of a hypertrophic
demyelinating neuropathy (CMT type 1) and a second group with relatively normal nerve
conduction velocities and axonal degeneration (CMT2).

Answer 11

Nerve Conduction Velocities (NCVs) - 1 is slow, 2 is fast

hypertrophic demyelinating neuropathy (type 1)
axonal degernation (type 2)

Question 12

Letters after the CMT numbers refer to ___

Answer 12

the specific genes affected

Presently mutations causing inherited neuropathies have been identified in more than 50 genes and at more than 44 distinct loci

Question 13

CMT1A is a duplication in the gene ___, also implicated in HNPP (but via deletion)

Answer 13

PMP22

Question 14

The cutoff for NCVs between demyelinating (1) and axonal (2) forms of CMT is about

Answer 14

35-45m/sec

Question 15

___ is the most common cause of neuropathies in the Western world, with distal sensory or sensorimotor polyneuropathy being the most common manifestations

Answer 15

Diabetes

Question 16

Diabetes is the most common cause of neuropathies in the Western world, with ___ being the most common manifestations

Answer 16

distal sensory or sensorimotor polyneuropathy

Question 17

___ is characterized by acute onset of asymmetrical proximal weakness and pain of the legs, often occurring at the onset of diabetes and accompanied by weight loss

Answer 17

Lumbosacral plexopathy

Question 18

Lumbosacral plexopathy is characterized by acute onset of asymmetrical proximal weakness and pain of the legs, often occurring at the ___ and accompanied by weight loss

Answer 18

onset of diabetes

Question 19

MG is an autoimmune disorder of the ___

Answer 19

post-synaptic ACh receptor

Question 20

85% of Myasthenia Gravis patients have ___ and 10% have a ___

Answer 20

thymic enlargement; thymoma

Question 21

___ symptoms are present initially in 50% of myasthenia gravis patients and eventually in 90%.

Answer 21

Ocular symptoms including ptosis, diplopia and blurred vision

Question 22

Diagnosis of myasthenia gravis is made via ___ tests

Answer 22

Serum AChR antibodies in 85%, MUSK antibodies in the rest

Question 23

Edrophonium is a ___, treatment for ___

Answer 23

cholinesterase inhibitor; myasthenia gravis

Question 24

Duchenne and Becker muscular dystrophy have X-linked deletions, duplications and point mutationsin the protein ___

Answer 24

dystrophin

Question 25

Of the muscular dystrophies, ___ has a later onset, better survival, and more benign prognosis

Answer 25

Becker

Question 26

Key findings in both Duchenne and Becker muscular dystrophy include ___

Answer 26

proximal muscle weakness, calf muscle hypertrophy, and Gower’s maneuver (get up)

Question 27

Duchenne and Becker are diagnosed clinically by the present of the Gower maneuver as well as elevated ___

Answer 27

creatinine kinase

Question 28

All motor neuron, neuromuscular junction and muscle diseases have no ___ changes accompanying the
weakness.

Answer 28

sensory

Question 29

Coexisting sensory complaints with muscle/motor neuron/NMJ disease suggest ___, ___, or ___.

Answer 29

nerve root, plexus or peripheral nerve disorder.

Question 30

Normal creatine kinase is ___

Answer 30

25-90 U/L for men, 10-70 U/L for women because they have lower muscle mass

Question 31

Normal NCS are ___

Answer 31

40m/sec in lower extremities, 50 in upper

Question 32

ALS affects the (upper motor neuron/lower motor neuron)

Answer 32

both

Question 33

___ cells in the thymus are linked to myasthenia gravis

Answer 33

Myoid

Question 34

DMD is a defect in the ___ called a ___ lesion

Answer 34

basement membrane; delta

Question 35

Truncated dystrophin leads to ___; absence leads to ___

Answer 35

Beckers; Duchenne

Question 36

One genetic option for DMD/BMD is to upregulate ___, which is 7% shorter than dystrophin

Answer 36

utrophin

Question 37

Progressive scoliosis which progresses rapidly past 40 degrees is a concern in ___

Answer 37

DMD