Transcript 1. dia - Pécsi Tudományegyetem

PÉCSI
TUDOMÁNYEGYETEM
SZEGEDI
TUDOMÁNYEGYETEM
Low back pain, syndromes requiring emergency management
Low back pain with proximal muscle
weakness
Differential diagnosis of lower extremity
proximal weakness
TÁMOP-4.1.1.C-13/1/KONV-2014-0001
„AZ ÉLETTUDOMÁNYI-KLINIKAI FELSŐOKTATÁS GYAKORLATORIENTÁLT ÉS HALLGATÓBARÁT KORSZERŰSÍTÉSE A
VIDÉKI KÉPZŐHELYEK NEMZETKÖZI VERSENYKÉPESSÉGÉNEK ERŐSÍTÉSÉRE”
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Hystory
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• 38. y.o female
• The familiy physician requires a
neurological/neurosurgical consultation:
low back pain
Suspected dg: lumboischialgia
• History:
– No previous illnesses
– No medication
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History
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Complaints -1.
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1. Low back pain
– Progressive pain going back to months
– Symmetrical pain around the lower back, buttocks,
hips
– Does not radiate to the thighs, shins or feet
– Movement, fatigue augments the pain
– No numbness or paraesthesia
– No problems with urination
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Complaints -2.
2. Weakness
– boarding a bus is getting more difficult
– Climbing stairs is getting more tiresome
– Beginning of weakness: „A year.. - probably?”
– „No, it’s not because of the pain that I can’t walk – it
hurts more in the evening!
– She can work while sitting – no difficulty with using
her hands
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History
Iskoláskor
2-5
éve
1,5-2
éve
Fél-1
éve
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A vizsgálat
napja
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Special attention should be paid to theese
during the physical exam…
Based on the patient’s complaints, before the physical exam, a
few possible causes, syndromes might arise…
(The physical exam should aim for symptoms to verify or contradict that..)
Chief complaint:
1. Low back pain
2. Proximal lower extremity weakness
Possible causes:
1.
2.
3.
Lumboischialgia (?)
…
…
Name a few possible causes with the characteristic signs!
(That should be sought during the physical..)
(The next slide shows the answers.)
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Special attention should be paid to theese… Answers
1.
Lumboischialgia (and other root problems)
–
–
–
2.
Degenerative joint /bone problems
–
–
–
–
3.
Hypaesthesia: glove and stocking
Paresis: peripheral type, more pronounced distally
Primary muscle disease (myositis muscle dystrophy, etc.)
–
–
–
6.
7.
Upper motoneuron lesion (reflexes increased, Babinski)
Autonomic symptoms
Polyneuropathy
–
–
5.
Pain is local, often asymmetric
Active or passive movement aggravates the pain
No hypaesthesia
„Weakness” is due to the pain or muscle atrophy
Spinal cord injury
–
–
4.
Lower motoneuron/peripheral type paresis
The paretic muscles are supplied by one (or several adjoining) roots)
Dermatomal hypaesthesia and pain
No sensory, autonomic symptoms or reflex anomaly
Weakness and atrophy show a specific pattern
Other special muscle sings: e.g. myotonia
Abdominal/pelvic problems
….
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Summary: physical status- 1.
„Local status” – lower extremity
• Trophy:
– Proximal muscles:
– Shin:
– Small feet muscles:
• Tone :
• Strength:
– proximal:
– Distal:
• Reflexes:
• Pyramidal sings:
• Sensory symptoms:
• Joints:
slightly hypotrophic
hypotrophic
slightly hypotrophic
normoton
3/5
dorsalflexion: 3/5, plantarflexion:4/5
symmetrical, brisk
none
none
not painful
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Summary: physical status - 2.
Upper extremity
• Trophy:
• Strength:
• Reflexes:
• Pyramidal signs:
• Sensory symptoms
Face:
Cranial nerves:
Lower arm slightly hypotroph
Small hand muscles, shoulder OK
Normal
Brisk
None
None
Narrow face, high forehead
slightly hypomimic
Slight ptosis
Normal
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Which syndrome is suspected? Why?
Not likely:
– Spinal root involvement (lumboischialgia)
•
No sensory symptoms, not a radical pattern
– Spinal cord
•
No pyramidal signs, no autonomic symptoms
– Polyneuropathy
•
No sensory symptoms, not distal predominance
– Abdominal/pelvic origin
•
Why?
No local symptoms, no plexus involvement (sensory)
– Bone/joint origin
•
No local symptoms
Suspected: myopathy
– Specific pattern of hypotrophy and weakness
– Facial symptoms/weakness
The pain:
» Secondary to muscle weakness, altered posture and degenerative joint
disease
» Rarely associated with muscle disease, mostly a myositis or metabolic
myopathy
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When is it urgent to treat a muscle disease
patient?
1. Name a few muscle diseases requiring urgent
management?
2. Is there an emergency here with our patient?
– Do you need other data to decide?
(The next slide shows the answers.)
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When is it urgent to treat a muscle disease?
1.
Which muscle diseases/conditions might require urgent (subacute: within a
few days) treatment?
–
–
–
–
2.
Is it urgent to treat our patient?
–
–
–
3.
Bacterial or viral myositis
dermatomyositis, polymyositis
Toxin or drug induced myopathies (e.g. statin)
Rhabdomyolysis (trauma)
No, it is unlikely, since:
Symptoms go back for years, progression is slow
Good general condition
No alarming symptoms (e.g. impending respiratory distress)
Might provide additional information (help to exclude the urgent cases):
–
lab
most important: CK, CRP, BSR (We), blood count, kidney function)
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Specialties of history and physical exam of
muscle patients
1. Which complaint and symptoms are
characteristic for muscle diseases?
2. Which (muscle)symptoms point toward a
non-muscle disease?
(The next slide shows the answers.)
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Negative and positive (muscle)symptoms
Negative
Positive
 Muscle weakness
 Muscle atrophy
 Myotonia
 Muscle contractures
 Myoglobinuria
Pattern!
 Fatigue
 Dicreased exercise
tolerance
 Muscle pain (Myalgia)
 Muscle cramps
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Negative and positive (muscle)symptoms – 2.
Characteristic for muscle disease:
• Muscle weakness and atrophy shows a specific pattern (Examples shown
later)
• Myotonia, myoglobinuria and muscle contractures characterize only a
few, specific muscle diseases
Rarely points to a muscle diseases:
• Fatigue and decreased exercise tolerance characterize several conditions
form cardiac decompensation to depression
• Muscle pain and muscle cramps uncommonly characterize a muscle
disease, first consider rheumatologic-orthopedic problems!
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Patterns of muscle involvement –
Pattern recognition
1. Proximal limb-girdle
•
Limb-girdle muscle dystrophies
2. Distal
•
•
Diff. dg.: neuropathy
DM, FSHD,
3. Proximal upper extr./Distal lower extr.
•
FSHD, Pompe
4. Distal upper extr./Proximal lower extr.
•
•
Inclusion body myositis
Myotonic dystrophy
1.
2.
3.
4.
5. Ptosis/Ophtalmoplegia
o
Without ophtalmoplegia:
•
•
o
Myotonic dystrophy
Congenital myopathies
With Ophtalmoplegia:
•
•
•
OPMD (oculopharyngeal muscle dystrophy)
CPEO (mithochondrial)
MG, LEMS, botulisms
6. Neck extensor
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What to do with a suspected muscle
diseaese?
1. Is it urgent?
2. Lab:
a. CK (ASAT, ALAT, bilirubin)
b. Inflammation: (CRP, BSR, Blood count)
c. Other manifestations (kidney, heart, etc.)
3. Special investigations:
a.
b.
c.
d.
EMG/ENG
Muscle biopsy
Genetic testing
Other special differencialdiagnosis
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How to diagnose a muscle disease?
Muscle biopsy
History
and
physical
status
Lab
Special
Diff. Dg.
EMG/ENG
Genetic
testing
• Avaibity of genetic testing makes muscle biopsy unnecessary in certain cases (Pl.
Duchenne, FSHD)
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CK (Kreatin kinase) -1.
• A small muscle injury (i.m. injection, small bruise,
GM convulsion) can cause a large (several
hundreds to thousands) CK elevation!
• Control: 1 (-4) weeks later (in a chr. situation)
• ASAT/ALT is also elevated with CK (all come from
the injured muscle)
•
Consider muscle injury if elevated ASAT/ALAT is not associated with hepatic
problems!
– In previous labs an elevated ASAT/ALAT might point to elevated CK (CK is
not included routinely in lab tests)
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Time course of CK elevation
(following a single muscle cramp or muscle injury)
Baseline
8 hrs after
the cramp
2. day
3. day
4. day
5. day
117
299
334
534
334
155
600
CK
Elevated:
•ASAT
•ALAT
•LDH
500
Muscle cramp
No Change:
400
gGT
bilirubin
300
200
≈
100
0
0
1
2
3
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5
Days
Muscle and Nerve, 2003,
Gilchrist
Creatine kinase-2.
• CK is proportional to the amount of injured
muscle fibers
– E.g. Duchenne
at 3 years: 20.000
at 20 years: 1.000 (Hardly any muscle fibers reminded)
• There are muscle diseases with normal or only
slightly elevated CK levels (150-1000)!
– E.g. FSHD, Myotonic dystrophy
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EMG/ENG
How can EMG help in the investigation of a muscle
disease?
(Which questions can be answered?)
1.
2.
3.
(the next slide shows the ansvers)
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EMG/ENG
How can EMG help in the investigation of a
muscle disease?
1. Is there a myopathy, neuropathy and/or
motor neuron involvement?
2. Is a myositis present?
3. Is there any other problems, e.g.
myotonia?
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Other test result – 1.
1. CK: 300
•
•
(norm: under)
controls: 150-400
• Other lab: normal
•
CRP, BSR/We, blood count
1. EMG/ENG
•
•
Myopathy
Myotonia
2. Muscle biopsy:
•
Myopathy - dystrophy
3. Family history: neg.
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Which genetic test is indicated?
1. Duchenne’s muscle dystrophy
2. Myotonic dystrophy
3. FSHD (facioscapulohumeral muscle
dystrophy)
4. Spinal muscle dystrophy
5. LGMD panel (group of limb-girdle muscle
dystrophies)
(The next slide shows the answers.)
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Which genetic test is indicated?
1.
2.
Duchenne’s muscle dystrophy
• XR inheritance, only boys are affected
• Age of onset: 2-5 years
Myotonic dystrophy
• Myotonia!
• Specific pattern of muscle wasting and weakness
3. FSHD (facioscapulohumeral muscle dystrophy)
•
•
4.
Spinal muscular dystrophy
•
•
5.
Pattern of muscle wasting and weakness is different
no myotonia
EMG: not myopathic
Muscle histology: neurogenic atrophy
LGMD panel (group of limb-girdle muscle dystrophies)
•
•
Only/mainly the proximal muscles are involved
no myotonia
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Genetic test
Myotonic dystrophy type I.
DMPK gene:
An extended repeat on one chromosome, the
other is normal.
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What comes after the diagnosis?
Therapy ?
Management!
Multisystemic disorder
1. Heart
–
–
Cardiomyopathy
Conduction disorder
2. Eye
–
Cataract
3. Endocrine
–
–
–
Diabetes
Thyroid
Fertility
4. Respiration
5. Others
• Fatigue
• Daytime sleepiness
• Problems with anesthesia
• Cognitive problems
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Myotonis dystrophy - cardiac manifestation metaanalyzis
Myotonic dystrophy
General population
1. Degree AV-block
Atrial fibrillation
EF < 50%
Sudden cardiac death
28 %
5,1%
7,2%
8,7%
1,6%
1,9%
3.0%
2,9 %
Mean life expectancy
53,2 ya.
Diff: 25 ys.
78,2 ys.
Int. J Cardiol. (2011) Petri et al
18 tanulmány
1828 DM1 beteg.
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Management and care
1. Family counseling, genetic testing
• Autosomal dominant with anticipation
2. Regular screening:
•
Holter-ECG, echocardiography, cataract, respiratory
function
3. Management of extramuscular manifestations:
Our patient:
•
•
Low back pain
Degenerative joint disease, multiple traumas
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Expert video
Ágnes Sebők MD PhD
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Test questions – 1. (Multiple choice)
Myotonic dystrophy is characterized by:
1. Involvement of facial and masticatory muscles
2. No pathology seen in muscle histology
3. Cardiac rhythm disorders are common, cardiac
death is more likely
4. X-linked recessive inheritance
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Test questions – 2. (Multiple choice)
Our patient is suspected having a hereditary muscle dystrophy. In his
first lab creatine kinase (CK) is 600 (normal up to 200). He has a
10x10 cm large bruise on his left thigh , and he explains, that he had
a fall three days before the blood test. When should we order a
control CK test?
1. No control is necessary, CK released by this injury is
already eliminated
2. In about a week
3. Right away, or in a day or two – does not really matter
4. After 1 and 2 months
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Test questions – 3. (Multiple choice)
Our patient complaints of proximal leg weakness going back to
months and progressing slowly. Which other complaints/symptoms
do strongly suggest a muscle disease?
1.
2.
3.
4.
Fatigue
Neck weakness
Decreased patellar and Achilles reflexes
Myotonia
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Answers and explanations following …
Right answers are labelled red
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Test questions – 1. (Multiple choice)
Answers and explanations
Myotonic dystrophy is characterized by:
1. Involvement of facial and masticatory muscles
–
Patients have a characteristic long and narrow face with frontal balding,
and slight ptosis.
2. No pathology seen in muscle histology
–
–
Muscle histology shows advanced muscle dystrophy
Other inherited muscle diseases have no or only slight pathological
changes
3. Cardiac rhythm disorders are common, cardiac death is
more likely
–
Regular Holter/Echo screening is mandatory!
4. X-linked recessive inheritance
–
MD has an autosomal dominant inheritance, with anticipation
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Test questions – 2. (Multiple choice)
Answers and explanations
Our patient is suspected having a hereditary muscle dystrophy. In his first lab
creatine kinase (CK) is 600 (normal up to 200). He has a 10x10 cm large bruise
on his left thigh, and he explains, that he had a fall three days before the blood
test. When should we order a control CK test?
1.
No control is necessary, CK released by this injury was already
eliminated at the time of the blood test
–
2.
CK released after a single injury reaches the maximum on the 3rd or 4th day, an other
3 to 4 days are necessary for complete elimination
In about a week
–
If it would be urgent for whatever reason, the 10-day value is informative, however, a
chronic condition is not well characterized by a single measurement
3. Right away, or in a day or two – does not really
matter
–
–
4.
CK levels might be higher …
In an emergency situation, or with very high values it is absolutely OK to have the
control right away - however, it is not the case now
After 1 and 2 months
–
–
This is the recommended protocol
Strenuous physical activity should be avoided for a few days before the blood test
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When should CK be controlled?
(after a single muscle cramp or injury)
1.
Why?
2.
3.
4.
600
500
CK
No control is necessary, CK released by this injury was already eliminated at the time of the blood test
CK released after a single injury reaches the maximum on the 3rd or 4th day, an other 3 to 4 days are
necessary for complete elimination
In about a week
If it would be urgent for whatever reason, the 10-day value is informative, however, a chronic
condition is not well characterized by a single measurement
Right away, or in a day or two – does not really matter
CK levels might be higher …
In an emergency situation, or with very high values it is absolutely OK to have the control right away however, it is not the case now
After 1 and 2 months
This is the recommended protocol
Strenuous physical activity should be avoided for a few days before the blood test
Muscle cramp (injury)
400
300
200
100
0
0
1
2
3
4
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Days
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Test questions – 2. (Multiple choice)
Answers and explanations
Our patient complaints of proximal leg weakness going back to months and
progressing slowly. Which other complaints/symptoms do strongly suggest a
muscle disease?
1.
Fatigue
–
2.
Neck weakness
–
3.
Neck weakness is associated only to a few disorder: ALS, myasthenia gravis or muscle diseases.
Decreased patellar and Achilles reflexes
–
4.
Muscle patients might have fatigue. However, fatigue is more likely caused by depression,
respiratory or cardiac disease or malignancy!
Reflexes might be decreased with weak muscles, however, polyneuropathy is the most likely cause
Myotonia
–
Myotonia is seen only in muscle diseases (but not only in
myotonic dystrophy)
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Author:
Ágnes Sebők MD PhD
Univ. of PécsNeurology, Dept. of Neurology
Contributors:
Endre Pál MD PhD
Univ. of PécsNeurology, Dept. of Neurology
Rewiever:
Sámuel Komoly MD DSc
Univ. of PécsNeurology, Dept. of Neurology
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