Muscle and nerve disease Flashcards

1
Q

What is the presentation of muscle disease in babies?

A

Poor suck/feeding
Failure to thrive
Floppy

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2
Q

What is the presentation of muscle disease?

A

Weakness or skeletal muscles
SOB
Cardiomyopathy
Cramp, pain, myoglobinuria

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3
Q

What are the signs of muscle disease?

A

Wasting/hypertrophy
Normal/reduced tone and reflexes
Motor weakness

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4
Q

What investigations should be done for muscle disease?

A
History and exam
Creatine kinase
EMG
Muscle biopsy
Genetic testing
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5
Q

What are the classifications of muscle disease?

A
Muscular dystrophies
Channelopathies
Metabolic muscle disease
Inflammatory muscle disease
Congenital myopathies
Iatrogenic
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6
Q

What are channelopathies?

A

Disorders of Ca, Na and Cl channels

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7
Q

What are the metabolic muscle diseases?

A

Disorders of carbohydrate or lipid metabolism
Mitochondrial myopathies
Endocrinopathy
Biochemical abnormalities

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8
Q

What is the presentation of inflammatory muscle disease?

A

Painful weak muscles with characteristic rash

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9
Q

What investigations should be done for inflammatory muscle disease?

A

Creatine kinase- increased
EMG
Biopsy

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10
Q

What is the treatment of inflammatory muscle disease?

A

Immunosuppression

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11
Q

What causes iatrogenical muscle disease?

A

MEdication

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12
Q

What is the clinical presentation of neuromuscular junction disease?

A
Fatiguable weakness
Ptosis
Bad talking
SOB
Diplopia
Trouble chewing and swallowing
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13
Q

What is myasthesia gravis?

A

Autoimmune disease caused gy antibodies against NMJ nicotinic cholinergic receptors

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14
Q

What investigations should be dine for myasthensia gravis?

A

Bloods- antibodies
Singe fibre EMG- jitter
CT chest

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15
Q

What is the treatment of myasthesia gravis?

A

Acetylcholinesterase inhibitors
Immunosuppression
Immunoglobulim/plasma exchange
Thymectomy

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16
Q

What do peripheral nerves consist of?

A

Sensory and motor axons

17
Q

What do small sensory axons detect?

A

Pain and temperature

18
Q

What do large sensory axons detect?

A

Joint position sense and vibration

19
Q

What are the types of peripheral nerve disease?

A

Root disease
Lesion of individual nerve
Generalised peripheral neuropathy

20
Q

What is root disease?

A

Degenerative spine disease causing inflammation and ilfiltration

21
Q

What is a lesion of an individual peripheral nerve?

A

Compressive/entrapment neuropathy

Vasculitic

22
Q

What are the types of generalised peripheral neuropathy?

A

Motor/sensory/both

With or without autonomic features

23
Q

What are the causes of generalised peripheral neuropathy?

A
Metabolic
Toxic
Hereditary
Infection
Malignancy
Inflammatory demyelination
24
Q

What metabolic reasons can cause generalised peripheral neuropathy?

A

Diabetes
Alcohol
Renal
B12

25
Q

What infections can cause generalised peripheral neuropathy?

A

Lyme’s

HIV

26
Q

What are the types of inflammatory demyelination?

A

Acute

Chronic

27
Q

What causes acute inflammatory demyelination?

A

Guillain Barre

28
Q

What causes chronic inflammatory demyelination?

A

Chronic inflammatory demyelinating polyneuropathy

29
Q

What are the signs and symptoms of nerve root disease?

A

Myotomal wasting and weakness
Reflex change
Drmatomal sensory change

30
Q

hat are the signs and symptoms of a lesion of a specific nerve?

A

Wasting and weakness of innervated muscle

Specific sensory change

31
Q

What are the signs and symptoms of generalises peripheral neuropathy?

A

Sensory and motor symptoms starting distally and moving proximally

32
Q

What investigations should be done for a peripheral nerve disease?

A
Bloods
Generic analysis
Nerve conduction studies
Lumber puncture
Nerve biopsy in some cases
33
Q

What can a pathology of the anterior horn cell cause?

A

Motor neuron disease

34
Q

What are the signs and symptoms of motor neurones disease?

A

Increased toe and brisk reflexes
Muscle fasciculation’s, wasting, weakness
No sensory involvement

35
Q

How is motor neurones disease diagnosed

A

Unique combination of signs and symptoms

EMG

36
Q

What is the treatment of motor neurones disease?

A

Supportive care

Riluzole