Muscle Disorders Flashcards

1
Q

What are muscular dystrophies and how do you Rx

A

Inherited muscle disorders that cause progressive weakness

Steroids
Ataluren - new drug which restores synthesis of dystrophin
OT / Physio
Treat other conditions

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2
Q

What should you think if rapid onset

A

Toxins
Drugs e.g. statin
Metabolic

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3
Q

What is Duchenne’s

A

X-linked recessive
Problem with dystrophin protein in muscle
Xp21 gene
Short survival

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4
Q

What are the symptoms of muscular dystrophies

What are later signs

A

Proximal muscle weakness first - shoulder / girdle
Muscle wasting
Pseudohypertrophy due to fatty infiltration of muscle
Gowers +ve (use hands on legs to help stand)
Waddling gait
Intellectular impairment
FTT

Late signs 
SOB due to resp muscle weakness 
Dysphagia 
Cardiomyoapthy + arrhythmia - screen 
Myoglobulinuria 
Scoliosis 
Tendon contractures 
Reduced tone and reflexes = late
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5
Q

What is Becker’s and how is it inherited

A

Milder form of DMD

X-linked

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6
Q

What is fascioscapulohumeral and how is it inherited

A
Facial, scapular and biceps weakness
Weakened diaphragm
Bilateral sensorineural hearing loss
Retinal telangiectasis 
AD
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7
Q

What is limb girdle dystrophy

A

Upper and LL proximal weakness

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8
Q

How do you differentiate myopathy from neuropathy

A
More gradual onset
Proximal weakness
Specific muscle groups
Preserved reflex
No parathesia or bladder
No fasiculations
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9
Q

What is myotonic dystrophy and what process does it follow and how do you Dx

A

Inherited AD affecting skeletal, cardiac and smooth muscle
Trinucleotide repeat disorder - anticipation
Most common muscle disease to present in adulthood

Dx = genetic analysis

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10
Q

What does it cause

A

Progressive muscle weakness
Prolonged contraction and unable to relax e.g. when shaking hand can’t let go
Cataract
Heart conduction - Cardiac arrhythmia / cardiomyopathy / heart block
Infertility due to testicular atrophy
Intellectual impairment
Peripheral neuropathy

Myotonic facies - ptosis / can't close mouth 
Frontal balding
Bilateral ptosis
Dysarthria
Myotonia
DM - type II 
Dysphagia
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11
Q

What are channelopathies

A

Abnormal fluxes of Ca, Na and Cl
Familial hypokalaemia periodic paralysis
Hyperkalaemia paralysis
Paramyotonia congenital

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12
Q

What are Sx

A

Episodic intermittent Sx
Unusual muscle contraction
Profound weakness
Measure K

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13
Q

What are metabolic muscle disorders

A

Disorders of carb / lipid metabolism
Mitochondria myopathy
Endocrinopathy
More significant weakness on exertion

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14
Q

What drugs can cause myopathy

A

Statins
Alcohol
Steroids

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15
Q

What are inflammatory muscle disease and what do they tend to have

A

Polymyositis - CD8
Dermatomyositites - CD4
Spontaneous pain at rest and local tenderness

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16
Q

What are the SX

A
Painful weak muscles
Shoulder and pelvic girdle
Dysphagia
Resp
Characteristic rash - heliotrope vs gottron's papule
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17
Q

What do you do for all muscle disorders including inerhited

A
Bloods - CK, ESR, AST and LDH 
- usually elevated 
EMG
Muscle Biopsy
Genetic test
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18
Q

How do you Rx

A

Steroids

Immunosuppresion

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19
Q

What is myasthenia gravis

A

Disorder of NMJ due to insufficient functioning Ach receptor
Ab against Ach receptor on post synaptic side of NMJ
Autoimmune

20
Q

What causes exacerbation

A
Exertion
BB
Lithium 
Phenytoin
Ax
Pregnancy
Infecion
Hypokalaemia
21
Q

What are the Sx

A

Fatigable weakness in
Limbs
Ptosis at end of the day (droopy eyelid)
- Worsened prolonged upgaze
Extra-ocular muscle - diplopia
Proximal muscle wasting
Facial and bulbar weakness
- Dysphagia
- Weakness in muscles of mastication / speech
SOB due to weakness in resp muscles = dangerous
- Can go into type 2 resp failure

22
Q

What are associations

A
Thymonas (20%)
Pernicious anaemia
Autoimmune thyroid 
Rheumatoid 
SLE
23
Q

How do you Dx

A
AchR Ab = 80% 
Anti-MuSk Ab / tyrosine kinase Ab if -ve 
Neurophysiology / EMJ
- Decreased response to stimulation 
CT chest to look for thymoma
CK normal
Spirometry to check FVC
24
Q

How do you Rx

A
Long acting acetylcholinesterase inhibitor - pyridostigmine 
Immunosuppression
- Initially prednisone if doesn't help 
- Azathioprine 
Bone protection if on steroid 
Thymectomy even if no thymoma
25
What do you give in relapse
Prednisolone
26
What do you give in life threatening resp crisis
Plasma exchange to filter Ab IV IG Treat trigger May need NIV / intubation
27
What is a thymoma
Tumour of anterior mediastinum | Death due to tamponade or airway compression
28
What is it associated with
Myasthenia gravis Red cell aplasia Dermatomyositis SIADH
29
What is DDx
Polymyositis | Myopathy
30
What are the SE anti-cholinesterase
``` Salivation Lacrimation Sweating Vomiting Miosis Diarrhoea ```
31
What is Lambort Eaton
Ab against calcium channel in PNS | Pre-synaptic
32
What causes
SCLC Breast Ovarian Autoimmuen
33
What are the symptoms
Repeated contraction = increased strength Limb girdle weakness - LL Diplopia Ptosis Hyporeflexia Autonomic - dry mouth / poor peeing / impotence Gait difficulty
34
How do you Dx
EMG Voltaged gated Ca Ab's CXR to look for lung cancer
35
How do you Rx
Treat cancer Immunosuppression IV IG / plasma exchange may be beneficial
36
What is not common in Lambort Eaton but common myasthenia
Opthalmoplegia | Ptosis
37
How do you Dx muscle disorder like DMD
CK
38
How do you Rx
Steroids | Physio
39
What anaesthetic are people with MG resistant too and what do they require less
Suxamethonium as depolarising NMJ blocker Myasthenia = Ab to post synaptic NMJ Will require less of non-depolarising as MS already reduces the receptors
40
What is spinal muscle atrophy
AR that causes loss of LMN leading to weakness of muscles used for movement affects anterior horn cell - Fasiculation - Reduced tone - Reduced power - Reduced reflexes
41
How do you Rx
``` MDT Physio NIIV Tracheostomy PEG ```
42
What Ax is CI in myasthenia graves
Gentamicin
43
What is plasma exchange
Removes large molecular weight substances that are harmful e.g. Ab
44
When is it used
MG GBS Devics Demyelinating polyneuropathy
45
What is IVIG and role
Give loads to Ab to dampen immune response
46
When is it used
MG GBS Inflammatory myelopathy
47
What are red flags for myopathy
``` Floppy baby Paucity of limb Alert but less motor Delayed motor Frequent falls Gower Myopathic face Myotonia High foot arch Hammer toe ```