Neuromuscular Motor Neuron Disease

Question 1

3 exam/history features of Motor neuron disease (LMN)

Answer 1

fasciculations, progressive weakness and hyporeflexia

Question 2

two findings on EMG/NCS in motor neuron disorders

Answer 2

increased insertional activity
reduced amplitude (normal CVs)

Question 3

Two genes for ALS

Answer 3

C9ORF72 more common than SOD1.

Question 4

Two variants of ALS (pure UMN and pure LMN)

Answer 4

Primary Lateral Sclerosis (pure UMN)

Progressive muscular atrophy (pure LMN

Question 5

Four regions to assess Edx and Exam to dx ALS

Answer 5

cranial, cervical, thoracic and lumbosacral

Question 6

2 drugs and 2 interventions to prolong survival in ALS

Answer 6

riluzole and edaravone

BiPAP and PEG tube

Question 7

Tx for PBA in ALS

Answer 7

amitriptyline

Question 8

SMA is autosomal ____

Answer 8

recessive

Question 9

How does nusinersin work ?

Answer 9

anit-sense oligonucelotide includes exon 7 into SMN2 gene to compensate for loss of SMN1 in SMA.

Question 10

How to differentiate SMA types 1, 2 and 3

Answer 10

developmental milestones (type 1 never sit, type 2 never walk, type 3 walk then lose ability)

Question 11

Genetics of Kennedy disease

Answer 11

X-linked recessive, CAG repeat in androgen receptor

Question 12

Clinical features of Kennedy disease

Answer 12

gynecomastia, testicular atrophy, muscle cramping symmetric bulbar and proximal LE symptoms.

Question 13

Two infectious causes of motor neuron disease

Answer 13

Polio (enterovirus)

WNV (flavivirus