Muscle and Nerve Diseases

Question 1

How do muscle diseases usually present ?

Answer 1

• Pain
• Cramping
• Weakness
• Atrophy
• Difficulty swallowing or breathing
• Stiffness
• Hypertrophy

Question 2

How should you investigate Muscle disease ?

Answer 2

• EMG
• Bloods - Look at CK levels
• Muscle Biopsy - Structure, Biochemistry and Inflammation
• Genetic Testing

Question 3

Name 3 congenital muscle diseases

Answer 3

1. Muscular dystrophies
2. Channelopathies
3. Energy (mitochondria/enzymes)

Question 4

Name 1 squired muscle disease

Answer 4

1. Inflammatory muscle disease

Question 5

How do we detect and treat muscle dystrophies ?

Answer 5

High CK levels. No specific treatment

Question 6

What are channelopathies ?

Answer 6

Disorders of the Ca 2+, Na +, K + and Cl - ion channels

Question 7

What symptoms do patients present with who have channelopathies ?

Answer 7

• Myotonia (delayed contraction)

- Periodic paralysis

Question 8

What is the treatment of channelomyopathies ?

Answer 8

• Immunosuppression

- Physiotherapy

Question 9

When discussing energy production muscle diseases how do we differentiate between problems in carbohydrate metabolism and lipid metabolism ?

Answer 9

If the fatigue/pain happens early on when exercising or later on.

Question 10

What is the treatment for energy production muscle diseases ?

Answer 10

Diet modifications

Supplements

Question 11

What are the two types of inflammatory muscle disease ?

Answer 11

Polymyositis and Dermatomyositis

Question 12

Out of Polymyositis and Dermatomyositis which one present with a rash ?

Answer 12

DM

Question 13

What can we see on investigations ?

Answer 13

CK high due to muscle damage and autoantibodies are present. CD8 present in PM and CD4 in DM.

Question 14

What should be done in DM ?

Answer 14

Tumour screen

Question 15

What is the treatment for inflammatory muscles disease ?

Answer 15

Immunosuppression

Question 16

How will a patient with Myasthenia Gravis present ?

Answer 16

• Fatiguable weakness
• Ptosis
• Diplopia

Question 17

What investigations should be done in someone suspected of having Myasthenia Gravis and what will show ?

Answer 17

• CT Chest to look for Thymoma
• EMG
• Bloods - Anti musk and AchR antibodies

Question 18

How do you treat Myasthenia Gravis ?

Answer 18

• Acetylcholinesterase inhibitors
• Immunosuppression - Prednisolone
• Steroid saving agent
• Thymectomy may be needed
• Plasma exchange

Question 19

What are the causes of generalised neuropathy ?

Answer 19

• Chronic alcoholism
• HIV
• Drug overdose
• Diabetes

Question 20

How does generalised neuropathy begin and develop ?

Answer 20

Starts distally and works proximally

Question 21

How do we investigate generalised neuropathy ?

Answer 21

• Bloods
• EEG/EMG
• Genetic testing
• Nerve biopsy

Question 22

How do we treat generalised neuropathy ?

Answer 22

Treat the cause.

Question 23

What causes Gullian-Barre syndrome ?

Answer 23

Thought to be linked to a problematic immune system usually triggered by a vaccine or infection.

Question 24

How does Gullian-Barre syndrome present ?

Answer 24

Pain, weakness and numbness of the hand, feet and limbs.

Question 25

Definition of myelopathy

Answer 25

Injury to the spinal cord

Question 26

Definition of radiculopathy

Answer 26

Injury to the nerve roots

Question 27

How does MND present ?

Answer 27

• Absent reflexes
• Flaccidity
• Decreased tone
• No sensory involvement
• May cause problems with swallowing/breathing

Question 28

What is the treatment of MND ?

Answer 28

Supportative measures e.g. Erectile dysfunction, constipation, nutrition, depression.

Question 29

What drug delays the need for ventilation in some people ?

Answer 29

Riluzone