Brainscape's Knowledge GenomeTM

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


See full index

Gwen - Neurology > Myopathies > Flashcards

Myopathies Flashcards

1
Q

Name the classifications of msucle disease

A

Muscular dystrophy

Metabolic msucle disease

Channelopathies

Inflammatory myopathies

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

What is myopathy?

A

Disease of voluntary muscle

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

What is myositis?

A

Inflammation of voluntary muscle

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

What are muscular dystrophies?

A

Inherited disorders of muscle cells

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

What are channelopathies?

A

Ion channel disorders of muscle cells

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

What is the predominant feature of muscle disease?

A

Weakness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What muscle problems can occur in Cushing’s syndrome?

A

Proximal myopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What myopathies occur in thyroid disease?

A
  • Severe proximal myopathy - Thyrotoxicosis
  • Myasthenia gravis - thyrotoxicosis
  • Hypokalaemic periodic paralysis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How would you distinguish clinically between neuropathy and myopathy?

A

Myopathy:

  • More gradual onset symmetric proximal weakness
  • Specific muscle groups affected
  • Preserved tendon reflexes
  • No paraesthesiae
  • No fasciculations
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What might an acute onset of features of myopathy suggest in terms of the cause?

A
  • Toxic
  • Drug
  • Metabolic
  • Neuropathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What might spontaneous pain at rest suggest in someone with features of myopathy?

A

Inflammatory cause

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What investigation would you do if you suspected someone had a myopathy?

A
  • Bloods - ESR, CK, AST, LDH
  • EMG
  • Muscle biopsy
  • Genetic testing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are features of myopathy on EMG?

A

Short duration, polyphasic action potentials. Sometimes there may also be spontaneous fibrillation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is Duchenne’s muscular dystrophy?

A

https://www.youtube.com/watch?v=DGOmN6rnsNk

Muscular dystrophy caused by absence of dystrophin, a protein normally present at the interface between the cytoplasm and the muscle cell membrane. Disruption of the cell membrane leads to uncontrolled entry of calcium into the cell.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How is duchenne muscular dystrophy passed on?

A

X-linked recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are features of duchenne muscular dystrophy?

A

Around age 4:

  • Difficulty running
  • Clumsy walking
  • Difficulty standing
  • Gowers sign
  • Calf pseudohypertrophy
  • Respiratory failure
17
Q

What is gower’s sign?

A

https://www.youtube.com/watch?v=t3uQIS9k4_Y

A patient that has to use their hands and arms to “walk” up their own body from a squatting position due to lack of hip and thigh muscle strength.

18
Q

Who does Duchenne muscular dystrophy most commonly affect?

A

Males - as X-linked recessive

19
Q

What is the following in someone with suspected DMD?

A

Calf pseudohypertrophy

20
Q

How would you investigate someone for duchenne muscular dystrophy?

A
  • Bloods - CK, ESR
  • Biopsy
21
Q

What might you find on biopsy of someone with DMD?

A
  • Variation in muscle fibre size
  • Necrosis
  • Regeneration and replacement by fat
  • Absence of dystrophin
22
Q

How would you manage someone with DMD?

A

No specific treatment

  • Passive physiotherapy
  • Portable respiratory support machine
23
Q

What is Becker’s Muscular dystrophy?

A

An X-linked disorder, Becker dystrophy exhibits many similarities to Duchenne dystrophy, but the onset occurs at a later age and the progress of the disease is slower, many patients surviving into adult life. Genetic studies indicate that this disorder is an allelic variant of Duchenne dystrophy.

Dystrophin levels are lowered but not absent

24
Q

How does BEcker’s muscular dystrophy differ from DMD?

A

Milder symptoms, later age of onset and better prognosis

25
Q

What is myotonic dystrophy?

A

Autosomal dominant condition is a genetic disorder with two different triple repeat mutations, most commonly an expanded CTG repeat in a protein-kinase (DMPK) gene (DM1).

Onset typically 25 years

26
Q

What are features of myotonic dystrophy?

A
  • Distal muscle weakness
  • Ptosis
  • Weakness
  • Thinning of the face and sternomastoids
  • Myotonia
  • Cataracts
  • Frontal baldness
  • Cognitive impairment
  • Oesophageal dysfunction
  • Cardiomyopathy/conduction defects
27
Q

What is hypokalaemic periodic paralysis?

A

A disorder characterized by generalized weakness, including bulbar muscles, that often starts after a heavy carbohydrate meal or following exertion. Attacks last for several hours. Serum potassium is usually below 3.0 mmol/L in an attack.

Calcium can be elevated.

28
Q

What is hyperkalaemic periodic paralysis?

A

Autosomal dominant condtion characterized by attacks of weakness, sometimes with exercise. Attacks start in childhood and tend to remit after the age of 20; they last about 30–120 min. Myotonia may occur. Serum potassium is elevated.

29
Q

How would you differentiate between neuropathy and myopathy?

A

In favour of myopathy

  • Gradual onset of symmetric proximal weakness- difficulty combing hair + climbing stairs (weakness also distal in myotonic dystrophy)
  • Dystrophies usually affect specific muscle groups (i.e. selective weakness on 1st presentation)
  • Preserved tendon reflexes

Neuropathy is more likely if there is:

  • Paraesthesia
  • Distal weakness
  • Bladder problems

Rapid onset= suggests neuropathy or a toxic, drug or metabolic myopathy

Excessive

  • Fatigability (increased with exercise) suggests myasthenia
  • Spontaneous pain= a rest + local tenderness suggests inflammatory myopathies
  • Coldly firm- suggests pseudo hypertrophic muscular dystrophies (DMD)
30
Q

What is fasciohymeral MD?

A

Weakness of face, shoulders and upper arms.

Onset at approx 12- 14.

AD inheritability.

Normal life expectancy.

31
Q

Investigation of muscle disease

A

Blood tests:

  • CK (indicates muscle damage)
  • ESR, AST, lDH
  • Genetic Testing
  • Timing:
    • EMG - reduced aplitude
    • Muscle biopty
32
Q

Whats limb girdle MD?

A

AD

Typically affects fgrils aged 10-20 years

Affects shoulders and pelvic girdle weakness

Severe disability in 20-25 years

33
Q

Management mytonic dystrophy

A

Rarely require treamtn

Medical: phenytoin

Gwen - Neurology (38 decks)

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