Muscle and nerve disease

Question 1

What shortens in a muscle ?

Answer 1

Myosin fibrins

Question 2

*remember myosin and actin fibrin

Answer 2

Myosin are the things tht tug at the actin within the cell walls and this causes the cell to shorten and the muscle to contract

Question 3

What can muscle disease present as?

Answer 3

MUSCLE WEAKNESS is key! Not associated with any sensory deficit - check for resp and swallowing muscles (as v important!
-Cardiac symptoms (cardiomyopathy, arrhythmias)
-Cramps/muscle pain, stiffnesss
-Myoglobinuria

Question 4

Broken down muscles is what? What does urine look like because of this?

Answer 4

Myoglobinuria - looks like a dark cola shade

Question 5

How does muscle disease present in babies

Answer 5

Floppy limbs, struggling to eat, failure to thrive, poor suck

Question 6

How do we investigate muscle disease?

Answer 6

History and examination!
Bloods - esp CREATINE KINASE
Electromyography
Muscle biopsy/genetic testing

Question 7

What are the causes of muscle diseases?

Answer 7

Genetic:
-Structural - dystrophies, progressive worsening
-Contractual - platau, usually doesn’t get much worse
-Coupling - channelopathies - cna be paroxysmal or cause myotonia
-Energy - metabolic

Aquired
-Electrolyte imbalance
-endocrine
-autoimmune inflammatory muscle disease
-Iatrogenic eg meds (steroids/statins)

Question 8

What type of disease is duchennes?

Answer 8

Genetic - Structural issue causing muscullar dystrophy

Question 9

What is Adinsons?

Answer 9

An adrenal gland under active/overactive

Question 10

What are hte 2 types of inflammatory muscle disease and what is the difference?

Answer 10

Polymyositis and Dermatomyositis (includes inflammation of the skin aka a rash)

Develop over days/weeks = painful, weak muscles

Diagnosed with a biopsy

Question 11

What is dermatomyositis associated with?

Answer 11

A tumour, it is often a paraneoplastic syndrome

Question 12

What is the treatment of ongoing inflmamatory muscle disease?

Answer 12

Immunosuppression +/- steroids

Question 13

WHat happens in Myasthenia Gravis? What is the clinical presentation? What are the 2 forms?

Answer 13

An autoantibody that attacks the ACh receptor on the muscle cells.

Progressively weakening muscles with repetitive movements “weaker as the day goes on”

Ocular/General

Occular = purely eye problem, - eye muscle weakness and diplopia
General = limbs and bulbar - inc speech and respiratory muscles

Question 14

How do we investigavte MAyasthenia Gravis? What do we have to check for which cncer and ow?

Answer 14

Look for the Autoantibodies! ACh receptor antibody, if not then MuSK antibody

Neurophysiology (sticking in needles to find things out)

Have to check for Thymus cancer with a CT

Question 15

What are the treatments for Myasthenia GRavis?

Answer 15

Cholinesetrase inhibitors

Steroid sparing Immunosuppressants
Steroids
Immunoglobulin/plasma exchange
Thymectomy

Question 16

What are peripheral nerves consisted of?

Answer 16

motor, sensory, autonomic axons and the myelin sheeth

Question 17

What is the most common causes of root disease?

Answer 17

disc herniation/degenaration

Question 18

What causes carpal tunnel?

Answer 18

entrapment neuropathy of the nerve

Question 19

What can cause individual nerve issues?

Answer 19

Compression, entrapment, vasculitic

Question 20

What are teh most common causes of perhipheral neuropathy?

Answer 20

-Diabetes, alcohol excess
-genetic/hereditory
-renal failure
-vitamin deficiency
-infections: lyme, HIV (leprosy)
-inflammatory
-paraneoplastic

Question 21

What are the 2 types of Inflammatory (auntoimmune) ?

Answer 21

-chronic
-acute (guillian Barre)

Question 22

What are hte sign sna dsymptoms of perhipheral nerve disease?

Answer 22

Loss or change of sensation
motor functions
Autonmic eg BP/Bowel/Bladder

Question 23

ould you get an extesor plantar response with lower motor neuron damage?

Answer 23

NO! It is a LMN responce

Question 24

What ofther signs would you expet to see with lower motor neuron damage?

Answer 24

Muscle weakness, atrophy, hypotonia, lack of reflexes, muscle fasiculations

Question 25

What can be the distrubution of Perhipheral nerve disease?

Answer 25

Often distal first, so from the feet if generalised.

Can be myotonal or dermatomal or even single nerve

Question 26

What investigations woudl ou do for Perhipheral nerve disease?

Answer 26

history, exmaination, mark out the area of loss.

Blood tests
Nerve conduction
Lumbar puncture (CSF analysis)
Nerve biopsy (sensory nerve)
Genetic analysis

Question 26

Where does Motor Disease affect?

Answer 26

limb -> bulbar -> resp

Motor and sensory

Question 27

What is Amyotrophic Lateral Sclerosis?

Answer 27

Motor neuron disease

Question 28

What are the the signs and symptoms of LMN ?

Answer 28

Fasiculations, wasting, weakness

Question 29

What type of dementia is associated with MND?

Answer 29

Frontal -> changes in personality

Question 30

WHat is the prognosis of MND?

Answer 30

Depends on how they present and the type and treatment. Median 3-5 years from onset

Question 31

How is MND diagnosed?

Answer 31

Clinically, electromyograohy

Question 32

How do we treat MND?

Answer 32

Supportive: Physio, OT, SALT, PEG feed, non-invasive ventilation, care

Riluzole (glutamate antagonist)

Anticipatory / palliative care