Neuromuscular Disorders

Question 1

What is motor neuron disease?

Answer 1

Progressive degeneration of motor neurons, leading to muscle wasting and weakness

Question 2

What is the average survival time for a patient with MND?

Answer 2

3 years

Question 3

90% of MND involves lower motor neuron. True/False?

Answer 3

True

Question 4

What is the most common phenotype of MND?

Answer 4

Amyotrophic lateral sclerosis (ALS)

Question 5

What is the main difference between ALS and PLS?

Answer 5

ALS has both UMN and LMN features, PLS UMN only

Question 6

ALS is associated with which type of dementia?

Answer 6

Frontotemporal dementia

Question 7

List investigations for MND

Answer 7

Clinical diagnosis (onset: bulbar, chest etc.)
Neurophysiology (EMG)

Question 8

Outline management of MND

Answer 8

Assess needs and organise care
Speech therapy
Nutrition support
Ventilatory support

Question 9

What is the classic sign of MND in the hands?

Answer 9

Split hand syndrome (preferential wasting of thenar group in the hand)

Question 10

MND causes does not cause sensory problems. True or false?

Answer 10

True

Question 11

Describe the basic pattern of symptoms in ALS

Answer 11

Both UMN and LMN features that starts in one limb and spread to other limbs and trunk

Question 12

Progressive bulbar palsy involves which cranial nerves?

Answer 12

CN IX, X & XII

Question 13

Progressive muscular atrophy has purely _____ motor neuron features

Answer 13

Lower

Question 14

PLS has purely _____ motor neuron features

Answer 14

Upper

Question 15

Botulism causes what symptoms?

Answer 15

Rapid onset weakness without sensory loss

Question 16

What are the risk factors for botulism?

Answer 16

• IV drug use
• Food (clostridium botulinum is present in soil)
• Wounds

Question 17

Botulism is a ___synaptic disorder?

Answer 17

Pre

Question 18

Lambert Eaton Myasthenic Syndrome (LEMS) is a ___synaptic disorder?

Answer 18

Pre

Question 19

Lambert Eaton Myasthenic Syndrome (LEMS) is strongly associated with which type of cancer?

Answer 19

Small cell lung cancer

Question 20

Myasthenia gravis is a ___synaptic disorder?

Answer 20

Post

Question 21

Myasthenia gravis is an autoimmune disease of which receptors?

Answer 21

Acetyl choline receptors

Question 22

What is the most common presentation of myesthenia gravis?

Answer 22

Extraocular weakness, facial and bulbar weakness (eyes drooping by end of day, choke after big meal etc)

Question 23

Facial weakness in myesthenia gravis is typically bilateral. True or false?

Answer 23

True

Question 24

Ptosis in myesthenia gravis is worse at the beginning of the day. True or false.

Answer 24

False - typically bilateral and worse at end of the day/prolonged upgaze

Question 25

Which antibodies indicate myesthenia gravis?

Answer 25

Anti-Ach Receptor Antibody (80-90% of patients

Question 26

What tests can indicate myesthenia gravis?

Answer 26

* Fatigue tests (eg blink 20 times – MG patients will fatigue) * Neck flexion – very few things have neck flexion weakness * Ice test – ptosis improved after applying ice for 2 mins

Question 27

What is the treatment for myesthenia gravis?

Answer 27

- Pyridostigmine (anticholinesterase) - Steroids _Steroid sparing agents – azathioprine / mycophenolate - Thymectomy

Question 28

75% of myesthenia gravis patients have abnormalities in what organ?

Answer 28

Thymus

Question 29

Polymyositis causes symmetrical distal muscle weakness. True or false?

Answer 29

False - it cases symmetrical, proximal muscle weakness

Question 30

What are the cutaneous features of dermatomyositis

Answer 30

* V-shaped rash over chest * Gottron's papules (on hands) * Heliotrope rash (on eyes) * Shawl sign

Question 31

What abnormalities are seen in blood tests in poly/dermatomyositis

Answer 31

Raised inflammatory markers and Ck

Question 32

What antibodies are seen in polymyositis

Answer 32

Anti-Jo-1

Question 33

What is the treatment of polymyositis

Answer 33

Steroids + immunosurpressive drugs (eg Methotrexate/azathioprine/ciclosporin)

Question 34

How does inclusion body myositis differ from polymyositis?

Answer 34

It is progressive weakness and wasting of both distal and proximal muscles (often asymmetrical) whereas polymyositis is symmetrical, proximal muscle weakness

Question 35

What is the muscle breakdown product that causes kidney damage in rhabdomyolysis?

Answer 35

Myoglobin