Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

NEURO > Muscle and Nerve Diseases > Flashcards

Muscle and Nerve Diseases Flashcards

1
Q

Presentation of muscle disease?

A
  • Muscle weakness
  • Cramping/pain/stiffness
  • Muscle wasting or hypertrophy
  • Normal or reduced tone/reflexes
  • Failure to thrive (infants)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Investigations for suspected muscle disease?

A
  • History and examination
  • Creatine Kinase
  • EMG (electromyography)
  • Muscle biopsy (structure, biochem, inflammation?)
  • Genetic testing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Types of congenital/genetic muscle disease?

A
  • Structural (dystrophies)
  • Contractile (myopathies)
  • Coupling (channelopathies)
  • Energy (enzymes/mitochondria)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Types of acquired muscle disease?

A
  • Metabolic (Ca/K)
  • Endocrine (thyroid/adrenal/vit D)
  • Inflammatory muscle disease
  • Iatrogenic (medication - steroids/statins)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Pathophysiology of Duchenne/Becker muscular dystrophy?

A
  • Mutation in Xp21 gene that produces dystrophin
  • Dystrophin is part of a collection of proteins that link the cytoskeleton of a muscle fibre to the ECM, in its absence muscle rigidity and strength are lost

Progressive diseases (Duchenne faster)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

When do muscular dystrophies tend to present? What is the course of the disease like?

A

Can have young or old onset (depends on dystrophy)

  • Progressive conditions, variable severity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What causes muscle channelopathies? Describe the nature of the symptoms

A
  • Disorders of Ca, Na, K and Cl channels
  • Symptoms often paroxysmal (paralysis/myotonia)
  • Partially treatable
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Types of metabolic muscle disease? Cause?

A

Type dependent on exercise induced response:

  • Early: carb metabolism disorder
  • Late: Lipid metabolism disorder
  • Often due to mitochondrial disorders, tend to be partially treatable
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Investigations for inflammatory muscle diseases? Treatments?

A
  • Creatine Kinase, antibodies, EMG & Biopsy

- Treated with immunosuppressants

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Pathophysiology of Myasthenia Gravis?

A
  • Autoimmune disease with antibodies directed against ACh receptors on post-synaptic membrane
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Presentation of myasthenia gravis?

A 
- 75% have thymus abnormality 
Fatiguable weakness (muscle weakness increases with use)
 - Ptosis and diplopia in eyes
 - Limb weakness (usually proximal)
 - Breathing/bulbar problems
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Investigations for suspected myasthenia gravis?

A
  • Bloods: AChR (acetylcholine receptor) antibodies
  • Nerve conduction studies
  • CXR/CT chest (thymus abnormalities)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Treatment of myasthenia gravis?

A
  • Symptomatic (Acetylcholinesterase inhibitor)
  • Immunosuppression
  • Immunoglobulin/plasma exchange
  • Thymectomy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Symptoms and signs of peripheral nerve disease?

A
  • Muscle wasting/weakness (may be entire myotome if nerve root damage)
  • Sensory change (dermatomal if nerve root injury)
  • Distal sensory/motor symptoms (generalized peripheral neuropathy)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Causes of general peripheral neuropathy?

A
  • Hereditary
  • Metabolic (diabetes/alcohol/renal/B12)
  • Toxicity (drugs)
  • Infectious (lyme/HIV/leprosy)
  • Malignancy
  • Inflammatory (Guillan Barre/chronic demyelinating neuropathy)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Investigations for suspected nerve disease? Treatment?

A
  • Bloods
  • Genetic Analysis
  • Nerve conduction studies
  • Lumbar puncture (CSF analysis)
  • Nerve Biopsy

Treatment: treat cause, stop drugs/surgery/immunosuppressants

17
Q

How does ALS (amyotrophic lateral sclerosis) tend to present?

A

Combination of UMN and LMN signs

  • LMN: muscle fasciculations, wasting, weakness
  • UMN: increased tone, brisk reflexes
  • No sensory involvement, can be some cognitive decline
  • Tends to progress from limb to bulbar to resp
18
Q

What causes ALS? When does it tend to present?

A
  • Degeneration of UMNs and LMNs from unknown cause
    (5-10% autosomal dominant)
  • Age of onset tends to be between 40-60yrs
19
Q

What is the prognosis for ALS like?

A
  • Die within 3-5 years of symptom onset, 2-3 years of diagnosis
  • 50% die within 14 months of diagnosis
20
Q

Investigations for motor neuron disease (ALS)?

A
  • EMG to confirm fasciculations and fibrillations

- Diagnosis based on exclusion of other causes of motor neuron damage

21
Q

Treatment for motor neuron disease (ALS)?

A
  • Supportive (feeding/ventilation/physio etc.)
  • Riluzole (delay need for ventilation support/short increase in lifespan)
  • Palliative

NEURO (52 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions