Muscle and nerve disorders Flashcards

1
Q

where does the UMN span

A

cortex through spinal cord and anterior horn cell

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2
Q

where does the LMN span

A

anterior horn cell to nerve ending muscle

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3
Q

what are muscles designed to do

A

designed to covert chemical energy into mechanical energy

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4
Q

what are the components of the chemical to mechanical process

A

Excitation-contraction coupling
contractile mechanism
Structural components
The energy system

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5
Q

what are the symptoms of muscle disease

A

Poor suck / feeding / failure to thrive / floppy

Weakness of skeletal muscle

Short of breath (respiratory muscles)

Poor swallow (aspiration)

Cardiomyopathy - heart failure, arrhythmias

Cramp, pain, myoglobinuria (muscle breakdown, excrete myoglobin in urine - turns urine black)

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6
Q

what are the signs of muscle disease

A

Wasting/ hypertrophy (because muscles aren’t relaxing)

Normal or reduced tone and reflexes

Motor weakness…NOT sensory

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7
Q

what investigations can be done for muscle disease

A

History and examination

CK - elevated creatinine kinase

EMG

Muscle biopsy

  • Structure
  • Biochemistry
  • Inflammation

Genetic testing

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8
Q

what are the different types of muscle disease and where can they occur

A

Muscular dystrophies

Channelopathies

Metabolic muscle disease

Inflammatory muscle disease

Congenital myopathies

Iatrogenic - medication

occur all along the sarcolemma (muscle cell membrane)

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9
Q

what do muscular dystrophies affect

A

mechanics of the muscle – structure – most genetic

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10
Q

what are the different types of muscular dystrophies

A

Duchennes MD - dystrophin protein defect

Beckers MD - dystrophin protein defect

facioscapulohumeral MD - facial weakness, scapular weakness, biceps weakness

myotonic dystrophy

limb-girdle MD - upper and lower limb proximal weakness

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11
Q

what are chanelopathies

A

disorders of Ca, Na, Cl channels

Symptoms episodic – periods of weakness – or muscles that don’t relax – due to irregular channel fluxes

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12
Q

list some chanelopathies

A

Familial hypokalemic periodic paralysis

Hyperkalemic periodic paralysis

Paramyotonia congenita

Myotonia congenita

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13
Q

what is affected in Familial hypokalemic periodic paralysis

A

K channels

Most common – intermittent symptoms – can last minutes, days – key to measure K – often associated with thyroid disease

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14
Q

what is affected in hyperkalemic periodic paralysis

A

K channels

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15
Q

what is affected in paramyotonia

A

Ca channels

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16
Q

what is affected in myotonia congenital

A

Ca channels

muscles feel stiff - constant low level contraction

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17
Q

give examples of metabolic muscle disease

A

Disorders of carbohydrate metabolism

Disorders of lipid metabolism

Mitochondrial myopathies/ cytopathies

Endocrinopathy (thyroid, Cushing)

Biochemical abnormalities

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18
Q

what do disorders of carbohydrate metabolism cause

A

low level weakness but much larger weakness on exercise

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19
Q

what do disorders of lipid metabolism cause

A

Weakness on longer periods of slower exertion

20
Q

what can biochemical abnormalities cause

A

Prolonged vomiting

some drugs – bring K down – causes weakness

21
Q

give examples of inflammatory muscle diseases

A

polymyositis - affects just the muscles

dermatomyositis - affects muscles plus skin inflammation

22
Q

how do inflammatory muscle diseases present

A
acute or subacute 
painful weak muscles
characteristic rash of dermatomyositis 
any age
systemic upset - feel generally unwell
23
Q

what investigations can be done for inflammatory muscle disease

A

↑CK
Electromyogram, inflammation and myopathic

Biopsy

  • PM: CD8 cells
  • DM: humeral-mediated, B cells and CD4 cells
24
Q

what is the treatment for inflammatory muscle disease

A

immunosuppression

steroids

25
Q

what is a disorder of the neuromuscular junction

A

myasthenia gravis

26
Q

what is the presentation of myasthenia gravis

A
Fatiguable weakness:
Limbs
Eyelids (ptosis)
Muscles of mastication (chewing), swallow
Talking
SOB
diplopia

as you use muscles - starts out strong and gets weaker - fine in the morning, gets worse as the day progresses

27
Q

what muscles does myasthenia gravis affect

A

skeletal muscle only

i.e. doesn’t affect the heart

28
Q

what investigations can be done for myasthenia gravis

A

AChR antibody - blocks binding site for ACh

Anti MuSK antibody

neurophysiology - repetitive stimulation (can look for fatigue)
- jitter

CT chest - thymoma - cancer associated with myasthenia gravis

29
Q

what is the treatment for myasthenia graves

A

Symptomatic
- Acetylcholinesterase inhibitor

Immunosuppression
- Prednisolone
- Steroid saving agent
(azathioprine)

Immunoglobulin - binds to antibodies

Plasma exchange - gets rid of antibodies in blood

Thymectomy

if you can get rid of the antibody - can get person into remission

30
Q

what does the peripheral nerve consist of

A

sensory axons

  • small fibres (pain, temp)
  • large fibres (joint and position sense, vibration

motor axons

31
Q

what are the three groups of nerve disease

A

root disease

lesion of the individual peripheral nerve

generalised peripheral neuropathy

32
Q

what can cause root disease

A

degenerative spine disease
inflammation
infiltration

33
Q

what are the symptoms and signs of root nerve damage

A

Myotomal wasting and weakness

Reflex change

Dermatomal sensory change

34
Q

what can cause individual peripheral nerve lesions

A

compressive/entrapment
vasculitic

eg carpel tunnel

35
Q

what are the symptoms and signs of individual nerve lesions

A

Wasting and weakness of innervated muscle

Specific sensory change

36
Q

what is characteristic of generalised periphery neuropathy

A

motor/sensory/both affected

affects all nerves – affects longest nerves first as they have the highest energy demand –

present first in feet, then hands, then work inwards

37
Q

what can cause generalised peripheral neuropathy

A

Metabolic: Diabetes, alcohol, renal, B12

Toxic: drugs

Hereditary

Infectious: Lyme, HIV, leprosy

Malignancy: paraneoplastic

Inflammatory demyelinating

  • Acute = Guillain Barre syndrome
  • Chronic = chronic inflammatory demyelinating polyneuropathy
38
Q

what are the triggers for inflammatory demyelinating generalised neuropathy

A

acute - e.g. guillain barre - triggered by infection - usually diarrhoea from campylobacter, can also be triggered by cytomegalovirus

chronic - no known triggers

39
Q

what are the symptoms and sings for generalised peripheral neuropathy

A

Sensory and motor symptoms starting distally and moving proximally

40
Q

what are investigations for peripheral nerve disease

A

Blood tests

Genetic analysis

Nerve Conduction Studies

Lumbar puncture (CSF analysis - not many cells but very high protein content)

Nerve biopsy (nb sensory nerve)

41
Q

what does disease of the anterior horn affect

A

anterior horn cell
upper motor neuron
corticospinal tract
coticobulbar tract

42
Q

what does disease of the anterior horn cause

A

motor neuron disease

43
Q

what is the progression of motor neuron disease

A

usually limb onset, later bulbar and respiratory involvement

44
Q

what are the signs for motor neurone disease

A

LMN - muscle fasiculations, wasting, weakness

UMN - increased tone, brisk reflexes

NO SENSORY INVOLVEMENT

45
Q

how is motor neurone disease diagnosed

A

mostly clinical

  • unique combination of UMN and LMN signs
  • no sensory issues

EMG

46
Q

what is the treatment for motor neurone disease

A

supportive (PEG, NIV< physio, OT care)

riluzole - glutamate antagonist – blocks action – can prolong survival by a couple months