Muscle & Nerve Diseases Flashcards

1
Q

How can muscle diseases present?

A
Weakness of skeletal muscle
Shortness of breath
Cardiomyopathy
Cramp, pain
Myoglobinuria
Wasting/hypertrophy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Give five of the major muscular dystrophies

A
Duchenne's MD
Becker's MD
Facioscapulohumeral MD
Myotonic dystrophy
Limb-Girdle MD
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What type of genetic linkage applies to Duchenne’s?

A

X linked

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

What are the Ix for Duchenne’s?

A

Creatine kinase
Genetic testing
Muscle biopsy

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

What is a common heart condition associated with Becker’s MD?

A

Cardiomyopathy

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

What type of genetic disorder causes myotonic dystrophy?

A

Autosomal dominant trinucleotide repeat disorders

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

What is a channelopathy?

A

A disorder of Ca, Na or Cl

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

What are three main forms of metabolic muscle disease?

A

Disorders of carbohydrate metabolism
Disorders of lipid metabolism
Mitochondrial myopathies/cytopathies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the two main types of inflammatory muscle disease?

A

Polymyositis

Dermatomyositis

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

What skin manifestation is indicative of dermatomyositis?

A

A characteristic rash

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are the Ix for inflammatory muscle disease?

A

Creatine Kinase - increased is indicative
EMG
Muscle Biopsy

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

What is the treatment for inflammatory muscle disease?

A

Immunosupression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the clinical presentation of myasthenia gravis?

A
Fatiguable weakness - 
Limbs
Eyelids
Muscles of mastication
Talking
SOB
Diplopia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the Ix for myasthenia gravis?

A

ACh receptor antibody test
Anti muscle specific kinase (MuSK) antibody test
EMG
Tension test

(CT chest)

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

What is the symptomatic treatment for Myasthenia gravis?

A

Acetylcholinesterase inhibitor

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

What is the long term treatment for myasthenia gravis?

A

Immunosuppression -
Prednisolone
Steroid saving agent (azathioprine)

17
Q

What is the link between myasthenia gravis and the thymus?

A

In young associated with thyme hyperplasia

In old associated with malignant thymoma

18
Q

What fibres can be affected by peripheral nerve disease?

A
Sensory axons (first order (ascending))
Motor axons (second order (descending))
19
Q

What forms of root disease are peripheral nerve diseases?

A

Degenerative spine disease
Inflammation
Infiltration

20
Q

Give to forms of lesions of individual peripheral nerves in peripheral nerve disease

A

Compressive/entrapment neuropathy

Vasculitis

21
Q

What is generalised peripheral neuropathy?

A

Disease of the motor or sensory or both types of peripheral nerve, with or without autonomic features

22
Q

What are the causes of generalised peripheral neuropathy?

A
Metabolic - DM, alcohol, B12
Toxic - drugs
Hereditary
Infectious - HIV, leprosy
Malignancy - paraneoplastic
Inflammatory demyelinating - acute: Guillain Barre 
chronic: CIDP
23
Q

What symptoms are caused by nerve root forms of peripheral nerve disease?

A

Dermatomal sensory changes
Myotomal wasting and weakness
Fasciculations

24
Q

What symptoms are caused by individual nerve lesion forms of peripheral nerve disease?

A

Specific sensory change
Wasting and weakness of innervated muscle
Fasiculations

25
Q

What are the symptoms of generalised peripheral neuropathy?

A

Sensory and motor symptoms starting distally and moving proximally

26
Q

What are the investigations for suspected nerve disease?

A
Blood tests
Genetic analysis
NCS/EMG
LP
Nerve biopsy
27
Q

What type of nerve disease is motor neurone disease?

A

Anterior/ventral horn cell disease

28
Q

What unique combination of signs indicates motor neurone disease?

A

A combination of both UMN and LMN signs

29
Q

What are UMN signs?

A

Pyramidal weakness, stiffness, brisk reflexes

30
Q

What are LMN signs?

A

Wasting, weakness, muscle fasiculations

31
Q

What is required for diagnosis of MND?

A

Unique combination of UMN and LMN diseases

EMG

32
Q

What is the treatment for MND?

A

Supportive treatment

Riluzole