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Muscle and Nerve Disease Flashcards

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1
Q

Function of muscle

A

Convert chemical energy into mechanical energy

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2
Q

4 components of muscle

A
  1. Structural component
  2. Contractile mechanism
  3. Excitation-contraction coupling (ion channels)
  4. Energy system
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3
Q

Symptoms of muscle disease

A 
Weakness of skeletel muscle
Short of breath
Poor swallow - aspiration
Cardiomyopathy
Cramp, pain, stiffness, myoglobinuria
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4
Q

Symptoms of muscle disease in children

A

Failure to thrive
Floppy
Poor feeding

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5
Q

Signs of muscle disease

A

Wasting
Hypertrophy
Normal/reduced tone with change in reflexes
Motor weakness, sensory normal

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6
Q

Investigation of muscle disease

A 
History and Exam
Creatine Kinase
EMG
Muscle biopsy
Genetic testing
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7
Q

Why is creatine kinase tested when investigating muscle disease?

A

Degenerating muscle releases CK

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8
Q

Which type of muscle is CK testing not specific to? What should be tested instead?

A

Cardiac

Troponin

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9
Q

What elements are investigated when taking a muscle biopsy?

A

Structure
Biochemistry
Inflammation

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10
Q

4 categories of congenital/geneticc muscle disease

A

Structural
Contractile
Energy
Coupling

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11
Q

Examples of structural congenital/genetic muscle disease

A

Muscular dystrophies

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12
Q

Example of contractile congenital/genetic muscle disease

A

Congenital myotrophies

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13
Q

Examples of coupling congenital/genetic muscle disease

A

Channelopathies

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14
Q

Examples of energy congenital/genetic muscle disease

A

Enzymes/ mitochondrial disease

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15
Q

4 Categories of Acquired muscle disease

A

Metabolic - Ca, K
Endocrine - thyroid, adrenal, vitamin D
Inflammatory muscle disease
Iatrogenic -medication; steroids, statins

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16
Q

What symptoms may present with statin use to suggest muscle disease?

A

Aches
Unknown if psychological or organic
Some evidence of inflammatory myositis

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17
Q

Typical age Muscular dystrophies present

A

Younger or older onset

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18
Q

Character of disease course of muscular dystrophies

A

Progressive

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19
Q

One sign of cell degeneration in muscular dystrophies

A

High CK

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20
Q

5 examples of muscular dystrophy

A 
Duchenne's 
Beckers
Facioscapulohumeral
Myotonic dystrophy (cataracts)
Limb Girdle
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21
Q

Treatment for muscular dystrophies

A

Purely supportive, not curative
Managing respiration, swallowing
Provide support to children

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22
Q

Features of myotonic dystrophy

A

Multisystemic
Infertility
Cognitive decline

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23
Q

4 examples of channelopathies

A

Familial hypokalaemic periodic paralysis
Paramyotonia congenita
Hyperkalemic periodic paralysis
Myotonic congenita

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24
Q

What channels are affected in Familial hypokalaemic periodic paralysis?

A

Ca, Na, K

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25
Which channels are affected in Paramyotonia congenita and Hyperkalemic periodic paralysis?
K
26
Which channels are afected in myotonia congenita?
Cl
27
Two factors to distinguish in metabolic muscle disease
Exercise induced or Fixed weakness
28
3 categories of metabolic muscle disease
Disorders of carbohydrate metabolism Disorders of lipid metabolism Mitochondrial myopathies/cytopathies
29
Features of mitochondrial myopathies
``` Genetic defect within mitochondrial gene Mild or profound effects Gut Deafness Diabetes Seizures Skeletal abnormalities ```
30
2 types of inflammatory muscle disease
Polymyositis | Dermatomyositis
31
Which inflammatory muscle disease is antibody associated?
Polymyositis | Needs aggressive immunosuppression to avoid fied weakness
32
Which inflammatory muscle disease is paraneoplastic?
Dermatomyositis
33
Onset of inflammatory muscle disease
Acute or subacute Any age Painful weak muscles Characteristic rash of DM
34
Investigations for inflammatory muscle disease
High CK EMG, inflammation and myopathic Biopsy
35
Which cells are found in polymyositis on biopsy?
CD8 cells
36
Which cells are found in dermatomyositis on biopsy?
Humeral mediated, B cells and CD4 cells
37
Treatment of inflammatory muscle disease
Immunosuppression
38
Disorder of the Neuromuscular Junction
Myasthenia Gravis
39
Presentation of myasthenia gravis
Fatiguable weakness Limbs, eyelids, muscles of mastication --> Talking, SOB, diplopia
40
Investigations for myasthenia gravis
Antibody serology - Anti MuSK, AChR ab Neurophysiology CT chest (thymoma)
41
What percentage of patients with myasthenia gravis have underlying thymoma?
10% | Look for nodule - thymic hyperplasia
42
Treatment for myasthenia gravis
Symptomatic - acetylcholinesterase inhibitor Immunosuppression - prednisolone, steroid saving agent Immunoglobulin.plasma exchange Thymectomy
43
4 components of the peripheral nerve
Sensory axons Motor aons Autonomic axons Nerve sheaths (myelin)
44
Small fibres of peripheral nerve communicate...
pain , temperature
45
Large fibres communicate...
joint position, vibration
46
3 origins of peripheral nerve disease
``` Root disease Lesion of individual peripheral nerve - Compression/entrapment neuropathy -Vasculitic (mononeuritis multiplex) Generalised peripheral neuropathy - Motor/Sensory/Both +/- autonomic features ```
47
2 types of generalised peripheral neuropathy
Axonal v Demyelinating
48
Causes of Generalised peripheral neuropathy
``` Hereditary Metabolic - diabetes, alcohol, renal B12 Toxic - drugs Infectious - Lyme disease, HIV, Leprosy Malignancy - paraneoplastic Inflammatory demyelinating - Acute : Guillain Barre Syndrome , Chronic : Chronic inflammatory demyelinating polyneuropathy ```
49
Signs and symptoms of Peripheral Nerve Disease - Root
Myotomal wasting and weakness Reflex change Dermatomal sensory change
50
Signs and symptoms of Peripheral Nerve Disease - Lesion of individual nerve
Wasting and weakness of innervated muscle | Specific sensory change
51
Signs and symptoms of Peripheral Nerve Disease - Gernealised peripheral neuropathy
Sensory and motor symptoms | Usually start distally and move proximally
52
Investigations for peripheral nerve disease
``` Blood tests - renal dysfunction, thyroid, liver Genetic analysis Nerve conduction studies Lumbar puncture (CSF analysis) Nerve biopsy ```
53
Motor Neuron disease - progression
Limb to bulbar to respiratory
54
Signs of MND
``` Upper and Lower Motor Neuron signs Muscle fasciculations, weakness, wasting Increased tone, brisk reflexes Sensory sparing 10% have cognitive decline ```
55
Prognosis of motor neuron disease
3-5 years from symptom onset, 2-3 from diagnosis | 50% die within 14 months diagnosis
56
Treatment for MND
Supportive (PEG feed, non invasive ventilation, physio, OT, SALT, care) Riluzole - will extend life 3 months - slows down progression, no strength gained Anticipatory, pallative care
57
Genetic mutation in Duchenne Muscular Dystrophy
Dystrophin gene Xp21 X-linked recessive Mothers to male children
58
Signs and symptoms of Duchenne Muscular Dystrophy
``` Frequent falls Fatigue Toe walking/difficulty walking - equinovarus foot Muscle weakness Muscle pseudohypertrophy Muscle fibrosis Positive Gower's test ```
59
What is Gower's sign
Patient starts in squatting position Assume tripod position Uses hands and arms to walk up body due to weakness in gluteus and quadriceps
60
Which type of mutations in the dystrophin gene cause Duchenne and Becker's?
Duchenne- nonsense, frameshift - more severe;presents before age 5 Becker's - missense - milder - presents age 10-20
61
Investigations for Duchenne's MD
DNA testing Creatine phosphokinase test - increased Muscle biopsies - confirm mutation EMG Electromyography - muscle destruction analysis
62
Treatment for Duchenne's
Prednisolone and creatinine replacement OT Physio Patient and parent education
63
Life expectancy for Duchenne's
25-30 years
64
Complications of Duchenne's
Cardiomyopathy Scoliosis Respiratory complications, risk of infections Osteoporosis

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