Muscle and Nerve Disease

Question 1

Where do UMN originate?

Answer 1

In the cortex

Question 2

Where do UMN synapse with LMN?

Answer 2

At the anterior horn cell

Question 3

Where do LMN terminate?

Answer 3

At the muscles

Question 4

What are the symptoms on muscle disease presentation?

Answer 4

Weakness of skeletal muscle 
Shortness of breath 
Poor swallowing 
Cardiomyopathy 
Cramp 
Pain 
Poor suckling/feeding in babies 
Myoglobiruria (darkened urine)

Question 5

What is myoglobinuria?

Answer 5

Darkened urine

Question 6

What are the clinical signs of muscle and nerve disease?

Answer 6

Wasting 
Hypertrophy 
Normal or reduced tone and reflexes 
Motor weakness 
Not sensory

Question 7

What investigations are reuqired for muscle and nerve disease?

Answer 7

history and examination 
CK 
EMG 
Muscle biopsy 
Genetic testing

Question 8

Why is genetic testing so important in muscle and nerve disease?

Answer 8

Because so many of these disease are genetic so testing is important

Question 9

What are the classifications of muscle and nerve disease?

Answer 9

Muscular dystrophies 
Channelopathies 
Inflammatory muscle disease
Congenital myopathies 
Iatrogenic (alot of medication now used degenerate and affect the muscle)

Question 10

Name 3 muscular dystrophies

Answer 10

Duchenne’s MD
Becker’s MD
Myotonic dystrophy

Question 11

What is the commonest muscular dystrophy?

Answer 11

Duchenne’s MD

Question 12

Is Duchenne’s MD more common in males or females?

Answer 12

Males

Question 13

What is Becker’s MD?

Answer 13

A milder form of Duchenne’s MS

Question 14

What are channelopathies?

Answer 14

Disorders of calcium

Sodium and chloride channels

Question 15

What are some channelopathie diseases?

Answer 15

Familial hypokalemic periodic paralysis
Hyperkalemic periodic paralysis
Paramyotonia congeintal

Question 16

What is the commonest channelopathie?

Answer 16

Familial hypokalemic periodic analysis

Question 17

What is duchenne’s MD?

Answer 17

Genetic disorder characterised by progressive muscle degeneration and weakness

Question 18

What causes duchenne’s MD?

Answer 18

Absence of dystrophin

Question 19

What is the prognosis for duchenne’s MD?

Answer 19

Tends to be short survival rates

Question 20

What are some typical appearances of duchenne’s MD?

Answer 20

Very big calves

Associated with hypertrophy of the muscle

Question 21

What are symptoms experienced with facioscapulohumeral MD?

Answer 21

Facial weakness
Scapula weakness
Bicep weakness

Question 22

What is the commonest channelopathie?

Answer 22

Familial hyopkalemic periodic paralysis

Question 23

How does Familial hypokalemic periodic paralysis often present?

Answer 23

With intermittent symptoms of paralysis and muscle weakness

Question 24

What is the key investigation during a familial hypokalemic periodic paralysis attack?

Answer 24

Measure potassium levels

Question 25

What causes hyperkalemic periodic paralysis?

Answer 25

High potassium in the blood

Question 26

What causes paramyotonia congenital?

Answer 26

Defects in calcium channels and release leading to a sustained depolarisation of muscles

Question 27

What are the signs of paramyotonia congenital?

Answer 27

Can't relax muscles Feel stiff Especially bad after excercise or cold temperature

Question 28

What metabolic problems can affect muscles?

Answer 28

Disorders of carbohydrate metabolism Disorders of lipid metabolism Endocrinopathy Biochemical abnormalities

Question 29

What inflammatory conditions can affect muslces?

Answer 29

Polymyositis | Dematomyositis

Question 30

What is polymyositis?

Answer 30

Inflammation and degeneration of skeletal muscle throughout the body

Question 31

What investigations need to be done for inflammatory muscle diseases?

Answer 31

``` Creatine kinase EMG Inflammation Ð PM: CD8 cells Ð DM: humeral-mediated, B cells and CD4 cells Biopsy ```

Question 32

What is the treatment for inflammatory muscle disease?

Answer 32

Immunosuppression

Question 33

What does myasthenia gravis affect?

Answer 33

Skeletal muscle only

Question 34

What is the clinical presentation of myasthenia gravis?

Answer 34

``` Fatiguable weakness Start of fine then progress to become a lot weaker - limbs - eyelids - muscles of mastication - talking (slurred speech) - SOB - Diplopia ```

Question 35

What are the investigations for myasthenia gravis?

Answer 35

``` AChR ab - antibody that block Ach getting onto its receptor Anti MuSK ab Neurophyioslogy CT chest (thoma) ```

Question 36

What is the treatment for myasthenia gravis?

Answer 36

Acetylcholinerterase inhibitor Immunosuppresion Thymectomy Immunoglobulin

Question 37

What causes myasthenia gravis?

Answer 37

Lack of Ach at the neuromuscular junction

Question 38

How is myasthenia gravis linked to the thymus in the young?

Answer 38

Associated with thymic hyperplasia

Question 39

How is myasthenia gravis linked to the thymus in the older?

Answer 39

May be associated with malignant thymoma

Question 40

What are classifications of nerve disease?

Answer 40

Root disease Lesion of individual peripheral nerve Generalised peripheral neuropathy

Question 41

What can cause root disease?

Answer 41

Ð Degenerative spine disease Ð Inflammation Ð Infiltration

Question 42

Give a common disease of the neuromuscular junction?

Answer 42

Myasthenia Gravis

Question 43

What can cause a lesion of a peripheral nerve?

Answer 43

Compressive/entrapment neuropathy | Vasculitic

Question 44

What can cause generalised peripheral neuropathy?

Answer 44

``` DM Alcohol Chronic renal failure B12 deficiency Hereditary Malignancy Inflammatory demyelinating Infection ```

Question 45

What is the commonest cause of peripheral neuropathy?

Answer 45

DM

Question 46

What are the signs and symptoms of nerve root disease?

Answer 46

Ð Myotomal wasting and weakness Ð Reflex change Ð Dermatomal sensory change

Question 47

What are the signs and symptoms of individual nerve disease?

Answer 47

Wasting and weakness of innervated muscle | Specific sensory changes

Question 48

What is a signs of generalised peripheral neuropathy?

Answer 48

Sensory and motor symptoms starting distally and moving more proximally

Question 49

What investigations need to be done for nerve diseases?

Answer 49

``` Blood tests Genetic analysis - Clear family history?? NCS (nerve conduction study) Lumbar puncture (CSF analysis) ```

Question 50

Why would you not biopsy a nerve?

Answer 50

Because would generate weakness in the muscle it was supplying

Question 51

Name a disease of the anterior horn cell?

Answer 51

Motor neuron disease

Question 52

What are signs and symptoms of motor neuron disease?

Answer 52

Increased tone and brisk reflexes LMN signs No sensory involvement Usually limb onset, later bulbar and respiratory involvement

Question 53

What is the prognosis for MND?

Answer 53

3-5 years from symptom onset | 2-3 years from diagnosis

Question 54

What is the usual cause of death in MND?

Answer 54

Respiratory failure

Question 55

What is the treatment for MND/

Answer 55

Supportive (MDT) Usually patient does not want ventilation Riluzole