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CP > Diseases of Muscle > Flashcards

Diseases of Muscle Flashcards

1
Q

What are the symptoms of muscle diseases?

A 
Wasting 
Pain
Cramping
Fasiculations
Weakness
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2
Q

What investigations are used to diagnose muscle diseases?

A

Clinical neurological examination
Electromyography - records electrical activity in muscles
Nerve conduction studies - tests peripheral nerves
MRI
Serum/Bloods- antibodies

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3
Q

What are the 3 different origins for muscle disease?

A

Neurogenic muscle disease - brain problems
Motor end-plate disorders e.g. myasthenia gravis
Primary muscle (myopathies) - destructive/non destructive

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4
Q

Where is a biopsy for suspected muscle disease usually taken from?

A

Quadriceps

Needle/core sample removed

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5
Q

Muscular dystrophies are normally due to a lack of which protein?

A

Sarcolemma

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6
Q

Duchenne muscular dystrophy and limb girdle muscular dystrophy are diseases of what?

A

the plasma membrane

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7
Q

Duchenne Muscular Dystrophy has what kind of inheritance?

A

Sex linked

Recessive

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8
Q

What protein is lacking in Duchenne Muscular Dystrophy?

A

dystrophin

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9
Q

How does Duchenne Muscular Dystrophy present (inc histologically)?

A 
Progressive proximal wasting of muscles
Hypertrophy of calves
Loss of muscle mass
Fibers hypertrophy due to muscle loss 
Immature fibers 
Fibrosis
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10
Q

Emery-Dreifuss Muscular Dystrophy has what kind of inheritance?

A

X linked recessive

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11
Q

How does Emert-Dreifuss Muscular Dystrophy normally present?

A

Weakness of proximal arm and distil leg
Early contractures
Cardiomyopathy

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12
Q

What 2 conditions is limb girdle muscular dystrophy similar to and needs to be excluded from?

A

Spinal muscular atrophy

Bone mineral density

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13
Q

Core diseases and nemaline myopathies come under dysfunction to what protiens?

A

Myofibrillar and internal cytoskeletal proteins

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14
Q

Core diseases have what kind of inheritance?

A

Dominant

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15
Q

The central core is where and only occurs in which type of fibre?

A

Zone in the center of a muscle fiber

Type I

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16
Q

How does central core disease present histologically?

A

Variation is fibre size
Every fibre contains 1 or more cores
No mitochrondia

17
Q

How does Nemaline myopathy present? (inc histologically)

A 
Generalised neonatal hypotonia - low muscle tone
Respiratory insufficiency
High arched palate
Kyphoscoliosis 
Abnormal Z band with rod bodies attached
18
Q

How is Nemaline myopathy inherited?

A

Autosomal recessive

19
Q

Malignant hyperthermia is what type of defect?

A

Ion channel and ion transporter defect

20
Q

What is malignant hyperthermia?

A

Abnormal susceptibility to certain anesthetic agents

Prolonged rise in intracellular Ca - rigid contractions/elevation in body temp

21
Q

How does malignant hyperthermia present histologically?

A

moderate increase in central nuclei

Occasional fibers contain cores

22
Q

Myotonic dystrophies and facioscapulohumeral dystrophy are defects of what?

A

Myopathies based on complex molecular defects
Myotonic dystrophies = repeat expansion diseases
Facioscapulohumeral dystrophy = large telomeric deletion disease

23
Q

How is myotonic dystrophy inherited?

A

Dominantly

24
Q

How does myotonic dystrophy present symptomatically?

A

Myotonic and progressive weakness of facial muscles - long face
Cardaic conduction defects

25
Q

How does myotonic dystrophy present histologically?

A 
Atropy of type I fibres 
Type II hypertrophy
Central nuclei
Moth eaten and targetoid fibres 
Ring fibres
26
Q

How is Facioscapulohumeral dystrophy inherited?

A

Dominantly

27
Q

How does Facioscapulohumeral dystrophy present?

A 
Facial/shoulder muscle weakness
Assymetrical weakness
Affects myocardium
Progressive deafness
Retinal vasculopathy
28
Q

What is myasthenia gravis?

A

Autoimmune disease

IgG antibodies against Ach receptors

29
Q

What is Eaton-Lambert Myasthenic syndrome?

A

Autoimmune

Antibodies against Ca voltage gated ion channels

30
Q

How do mitochondrial myopathies present histologically?

A

Ragged red fibres

Accumulation of lipid

31
Q

Dermatomyositis is what type of myopathy?

A

Immune and infectious myopathies

32
Q

What is Dermatomyositis and how does is present?

A 
Inflammation of the skin and underlying muscle tissue
Autoimmune/cancer
Scaly rash 
Discoloration
Swelling
33
Q

How does Dermatomyositis present histologically?

A

Mononuclear cells infiltrate the muscle - fiber necrosis/fibrosis
Inflammation where B cell predominant

34
Q

What are the most common drugs that induce a myopathy?

A

Steroids - most common
Statins
Heroin/Ecstasy = acute necrotizing myopathy

35
Q

What is motor neuron disease?

A

Progressive disease
Widespread degeneration of motor neurons
Upper and lower motor neuron signs - wasting, spasticity, brisk reflexes

CP (50 decks)

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