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*Nervous System - Pathology > Muscle & Nerve Diseases > Flashcards

Muscle & Nerve Diseases Flashcards

(52 cards)

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1
Q

What are the common presenting symptoms of muscle disease?

A 
Weakness of skeletal muscle
Shortness of breath 
Poor swallow
Cardiomyopathy 
Cramp, pain, stiffness, myoglobinuria 
(babies: poor suck, feeding, failure to thrive, floppy)
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2
Q

What are the common signs of muscle disease?

A

Wasting/hypertrophy
Normal or reduced tone and reflexes
Motor weakness (not sensory)

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3
Q

What is the appropriate investigation for muscle disease?

A 
History and examination 
Creatine Kinease (CK)
EMG 
Muscle biopsy (structure, biochemistry, inflammation)
Genetic testing
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4
Q

What is the classification of muscle disease?

A

Congenital/genetic

Acquired

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5
Q

What are the types of congenital muscle diseases, and give examples?

A
  • Structural: muscular dystophies
  • Contractile: congenital myopathies
  • Coupling: channelopathies
  • Energy: enzymes/mitochondria
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6
Q

What are the types of acquired muscle disease, and give examples?

A
  • Metabolic (Ca, K)
  • Endocrine (thyroid, adrenal, vit D)
  • Inflammatory muscle disease
  • Iatrogenic: medication (steroids/statins)
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7
Q

What are the characteristics of muscular dystrophies?

A

Young or older onset
Progressive wasting of muscles
Cell degeneration (high CK)

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8
Q

What are some types of muscular dystrophies?

A
  • Duchenne’s MD (dystrophin; most common)
  • Becker’s MD (dystrophin; milder Duchenne’s)
  • Fascioscapulohumeral MD (weakness of face, scapula, biceps)
  • Myotonic dystrophy (myotonia; cataracts)
  • Limb-Girdle MD
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9
Q

What are channelopathies?

A

Disorders of Ca, Na, K and Cl channels

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10
Q

What are some types of channelopathies?

A
  • Familial hypokalemic periodic paralysis (all Ca, Na, K; most common)
  • Hyperkalemic periodic paralysis (Na)
  • Paramyotonia congenita (Na)
  • Myotonia congenita (Cl)
  • Can also get non-muscular channelopathies - tinnitus; seizure; short QT
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11
Q

Describe Duchenne’s MD

A 
Absence of dystrophin
Tends to be short survival rates
Difficulty standing/walking and large calves (sometimes painful); clumsiness
Muscle weakness - hips, pelvis, legs
Walking on balls of feet
Learning/behavioural problems
Trouble breathing
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12
Q

What are the characteristics of metabolic muscle disease?

A

Some are exercise induced vs fixed weakness
Metabolic refers to chemical reactions that provide energy, nutrients and substances necessary for health and growth
Symptoms occur when muscle cells don’t get enough energy. Without enough energy, the muscle lacks enough fuel to work properly

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13
Q

What are some examples of metabolic muscle disease?

A
  • Disorders of carbohydrate metabolism - glycogenoses
  • Disorders of lipid (fatty acid) metabolism
  • Mitochondrial myopathies/cytopathies
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14
Q

How does familial hyperkalemic periodic paralysis present?

A

Intermittent symptoms of paralysis and muscle weakness

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15
Q

What is the cause and the appropriate investigations for hyperkalemic periodic paralysis?

A

Cause - high potassium in blood

Investigation - measure potassium levels

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16
Q

What causes paramyotonia congenita?

A

Defects in calcium channels and release leading to a sustained depolarisation of muscles

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17
Q

What are the signs of paramyotonia congenita?

A

Can’t relax muscles
Feel stiff
Especially bad after exercise or cold temperature

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18
Q

What are some inflammatory muscle diseases?

A

Polymyositis

Dermatomyositis (can be paraneoplastic)

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19
Q

What are polymyositis and dermatomyositis?

A

Polymyositis affects many areas, mainly the larger muscles e.g. shoulders, hips and thighs
When polymyositis develops alongside a skin rash, the condition is dermatomyositis
Both are autoimmune diseases

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20
Q

Symptoms of inflammatory muscle diseases?

A
  • painful, weak muscles
  • malaise
  • weight loss
  • night sweats
  • characteristic rash in dermatomyositis
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21
Q

Investigations for inflammatory muscle disease?

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A
  • high CK
  • EMG, inflammation and myopathic
  • biopsy (poly = CD8 cells; derm = humeral-mediated, B cells and CD4 cells)
22
Q

Treatment for inflammatory muscle disease?

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A

Immunosuppression

23
Q

What are the causes of paramyotonia congenita (channelopathy)?

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A

Defects in calcium channels and release leading to a sustained depolarisation of muscles

24
Q

Signs of paramyotonia congenita?

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A

Can’t relax muscles; muscle stiffness (myotonia) - fibres are slow to relax after contracion
Especially bad after excercise or cold temperature

25
Give a disorder of the neuromuscular junction
Myasthenia gravis (chronic autoimmune neuromuscular disease characterised by varying degrees of weakness of skeletal muscles)
26
What is the cause of myasthenia gravis?
Antibodies block, alter, or destroy the receptors for acetylcholine at the neuromuscular junction, which prevents muscle from contracting
27
What is the clinical presentation of myasthenia gravis?
``` Fatiguable weakness in: - limbs - eyelids (ptosis) - muscles of mastication and swallowing - talking Shortness of breath Diplopia ```
28
What are the investigations for myasthenia gravis?
- AChR ab - Anti MuSK ab - Neurophysiology (repetitive stimulation & jitter) - CT chest - thymoma
29
What is linked to myasthenia gravis?
Enlarged thymus gland even in adulthood - plays a role in the disease and can develop tumours which can become cancerous (thymoma)
30
What is the symptomatic treatment for myasthenia gravis?
Acetylcholinesterase inhibitor e.g. pyridostigmine - slow the breakdown of ACh at the NMJ
31
What is the immunosuppressive treatment for myasthenia gravis?
Prednisolone Steroid saving agent e.g. azathioprine These suppress the production of abnormal antibodies
32
Give 2 more methods of treatment for myasthenia gravis
Immunoglobin/plasma exchange - in severe cases; only last for a few weeks/months Thymectomy - reduce symptoms and can even cure
33
What is a myasthenic crisis?
Medical emergency that occurs when the muscles that control breathing weaken to the point where individuals require a ventilator to help them breathe (15-20% of affected people experience at least 1)
34
What does a peripheral nerve consist of?
Sensory axons Motor axons Autonomic axons Nerve sheath (myelin)
35
What fibre types are found in sensory axons?
``` Small fibres (pain and temp) Large fibres (joint position sense and vibration) ```
36
What are the three main categories of nerve disease/where can the damage occur?
- Root disease - Lesion of individual peripheral nerve - Generalised peripheral neuropathy
37
What are the causes for lesions of an individual peripheral nerve?
Compressive/entrapment neuropathy (a 'trapped nerve') - direct pressure on the nerve Vasculitic e.g. mononeuritis multiplex
38
What are the types of generalised peripheral neuropathy?
Axonal Demyelinating
39
What are the causes of generalised peripheral neuropathy?
- Hereditary - Metabolic - Toxic (drugs) - Infectious - Malignancy (paraneoplastic) - Inflammatory demyelinatinf
40
What are some metabolic causes of generalised peripheral neuropathy?
Diabetes, alcohol, renal, B12
41
What are the infectious causes for GPN?
Lyme, HIV, leprosy
42
What are the 2 types of inflamatory demyelinating causes for GPN?
- Acute = Guillain Barre syndrome | - Chronic = chronic inflammatory demyelinating polyneuropathy
43
What are the symptoms/signs of nerve root disease?
Myotomal wasting and weakness Reflex change Dermatomal sensory change
44
What are the symptoms/signs of individual nerve disease?
Wasting and weakness of innervated muscle | Specific sensory change
45
What are the symptoms/signs of generalised peripheral neuropathy?
Sensory and motor symptoms, usually starting distally and moving proximally
46
What causes nerve root disease?
They are precipitated by acute or chronic pressure on a nerve root in or adjacent to the spinal column; most common cause is a herniated disk
47
What are investigations done in nerve disease?
- Blood tests - Genetic analysis - Nerve conduction studies - Lumbar puncture (CSF analysis) - Nerve biopsy (nb sensory nerve)
48
Name a disease of the anterior horn cell?
Motor neuron disease (amyotrophic lateral sclerosis)
49
What are the signs of MND?
Combination of UMN and LMN signs: LMN = muscle fasciculations, wasting, weakness UMN = increased tone, brisk reflexes No sensory involvement 10%+ have cognitive decline Usually starts with limb weakness, then bulbar (CN - 9, 10, 11, 12), then respiratory
50
What is the prognosis for MND?
3-5 years from symptoms onset 2-3 yeas from diagnosis 50% die within 14 months of diagnosis
51
What is used to diagnose MND?
Mainly clinically - unique combo of UMN and LMN signs | EMG can be performed
52
Treatment for MND?
- Supportive (PEG feed, non-invasive ventilation, physio, OT, SALT, care) - RILUZOLE (prolongs life for 3-4 months avge; standard practice to commence after diagnosis) - Anticipatory/palliative care

*Nervous System - Pathology (13 decks)

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