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Myotonic dystrophy
Case Presentation
March 2013
Outline
• Case
• Background
• Signs and symptoms
• Treatment
• Considerations for anaesthetic
• Summary
Case
• 46 year old male
• Known myotonic dystrophy
• Right open ankle fusion & osteotomy
• WHAT ARE THE ANAESTHETIC CONSID...
Background (1)
• LOTS OF NAMES
– Myotonic Dystrophy
– Steinert’s Disease
– Dystrophica Myotonica
– Myotonica Atrophica
– B...
Background (2)
• Chronic, slowly progressing, highly variable,
multisystem disease
• M=F
• 1 per 7000/8000 people
• Autoso...
Signs and symptoms (1)
• Neuro:
– Wasting/weakness of
muscles
– Myotonia
– Cognitive impairment
– Behavioural problems
– E...
Signs and symptoms (2)
• Endocrine:
– Insulin resistance,
hypothyroidism
– Male infertility
– Premature frontal
balding
• ...
Useful clinical clue for diagnosis:
Failure of spontaneous letting go of the hands
following strong handshakes due to myot...
Definitive diagnosis by:
• DNA analysis
• EMG
• Slit lamp exam of lens
• Serum CK
• Serum FSH, testosterone
• ECG
• Muscle...
Treatment
• No cure or treatment
• Manage complications – orthotics,
pacemakers, physio, mobility aids
Myotonic Dystrophy & Anaesthesia
Anaesthetic related problems
• Diagnosis
• Getting correct history
• Cardio-respiratory complications
• Aspiration risk
• ...
Pre-assessment
• Precise diagnosis
• Full discussion with patient & family re:
potential risks/benefits
• Assessment of fu...
Cardiac investigations
• Routine ECG
– Abnormality may not be apparent on ECG
• If symptomatic
– 24 hr ECG tape
– Invasive...
Respiratory investigations
• CXR
– Subclinical aspiration common
• Pulmonary function tests
– Spirometry
– ABG
Airway problems
• ? RSI
– Aspiration risk
– Avoid suxamethonium
• ? Intubation difficulty
Peri-operative management
• Sensitivity to sedative, analgesic, anaesthetic
drugs
• Neuromuscular blockade – NDMR in reduc...
Peri-operative complications
• OSA, aspiration
• Dysrrythmias, cardiac failure
• Autonomic dysfunction
• Myotonia
• Rhabdo...
Myotonia
• Can be precipitated by:
– suxamethonium
– anticholinesterases
– opioids
– alterations in temperature/shivering
...
Post-operatively
• Timing of extubation
• Avoid hypothermia
• Monitor electrolytes
• May need higher level of care post op...
Pregnancy in MD
• Increase in myotonic symptoms
• Atonic uterus
• PPH common
• Mother can pass on congenital form to baby
Case
• Spinal sited with 2.2ml 0.5% heavy marcain
and 0.3mg diamorphine
• No sedation required
• Oxygen via simple hudson ...
Summary
• Large spectrum of signs & symptoms
• Often misdiagnosed or underdiagnosed
condition
• Knowledge & awareness of c...
References
• http://www.myotonicdystrophysupportgroup.org
• FRCA “Neuromuscular disorders and anaesthesia”
(2009)http://ww...
Myotonic Dystrophy - Anaesthetic Considerations
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Myotonic Dystrophy - Anaesthetic Considerations

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Myotonic Dystrophy - Anaesthetic Considerations

  1. 1. Myotonic dystrophy Case Presentation March 2013
  2. 2. Outline • Case • Background • Signs and symptoms • Treatment • Considerations for anaesthetic • Summary
  3. 3. Case • 46 year old male • Known myotonic dystrophy • Right open ankle fusion & osteotomy • WHAT ARE THE ANAESTHETIC CONSIDERATIONS?
  4. 4. Background (1) • LOTS OF NAMES – Myotonic Dystrophy – Steinert’s Disease – Dystrophica Myotonica – Myotonica Atrophica – Batten-Curschmann’s – Hoffman’s
  5. 5. Background (2) • Chronic, slowly progressing, highly variable, multisystem disease • M=F • 1 per 7000/8000 people • Autosomal dominant – DMPK gene, nucleotide repeat disorder, anticipation • 2 types: – Type 1 – Type 2 - Proximal Myotonic Myopathy (PROMM)
  6. 6. Signs and symptoms (1) • Neuro: – Wasting/weakness of muscles – Myotonia – Cognitive impairment – Behavioural problems – Excessive sleepiness • CVS: – Heart conduction defects; arrhythmias – Cardiomyopathy • Resp: – Regular chest infections – Aspiration – Hypoventilation, OSA
  7. 7. Signs and symptoms (2) • Endocrine: – Insulin resistance, hypothyroidism – Male infertility – Premature frontal balding • Opthalmology: – Cataracts – Ptosis • GI – Swallowing problems – Gallstones – Constipation/diarrhoe a • Skeletal – Scoliosis – Talipes
  8. 8. Useful clinical clue for diagnosis: Failure of spontaneous letting go of the hands following strong handshakes due to myotonia
  9. 9. Definitive diagnosis by: • DNA analysis • EMG • Slit lamp exam of lens • Serum CK • Serum FSH, testosterone • ECG • Muscle biopsy
  10. 10. Treatment • No cure or treatment • Manage complications – orthotics, pacemakers, physio, mobility aids
  11. 11. Myotonic Dystrophy & Anaesthesia
  12. 12. Anaesthetic related problems • Diagnosis • Getting correct history • Cardio-respiratory complications • Aspiration risk • ? Difficult airway • Analgesic/anaesthetic drugs • Neuromuscular blocking drugs • Myotonia triggers • Pregnancy
  13. 13. Pre-assessment • Precise diagnosis • Full discussion with patient & family re: potential risks/benefits • Assessment of function & co-morbidities • Investigations • Anaesthetic plan • Planning post-op care
  14. 14. Cardiac investigations • Routine ECG – Abnormality may not be apparent on ECG • If symptomatic – 24 hr ECG tape – Invasive electrophysiological studies – ECHO • If asymptomatic – annual ECG, 24hr tape every 2 years, TTE every 5 years
  15. 15. Respiratory investigations • CXR – Subclinical aspiration common • Pulmonary function tests – Spirometry – ABG
  16. 16. Airway problems • ? RSI – Aspiration risk – Avoid suxamethonium • ? Intubation difficulty
  17. 17. Peri-operative management • Sensitivity to sedative, analgesic, anaesthetic drugs • Neuromuscular blockade – NDMR in reduced doses (10 - 20%); avoid suxamethonium • Close temperature control • Use of regional anaesthesia if possible
  18. 18. Peri-operative complications • OSA, aspiration • Dysrrythmias, cardiac failure • Autonomic dysfunction • Myotonia • Rhabdomyolysis
  19. 19. Myotonia • Can be precipitated by: – suxamethonium – anticholinesterases – opioids – alterations in temperature/shivering – acidosis
  20. 20. Post-operatively • Timing of extubation • Avoid hypothermia • Monitor electrolytes • May need higher level of care post op (HDU, ITU) • High index of suspicion for respiratory complications • Opioids with caution for post op analgesia
  21. 21. Pregnancy in MD • Increase in myotonic symptoms • Atonic uterus • PPH common • Mother can pass on congenital form to baby
  22. 22. Case • Spinal sited with 2.2ml 0.5% heavy marcain and 0.3mg diamorphine • No sedation required • Oxygen via simple hudson facemask • Uneventful anaesthetic
  23. 23. Summary • Large spectrum of signs & symptoms • Often misdiagnosed or underdiagnosed condition • Knowledge & awareness of condition means the avoidable & expected complications can be minimised
  24. 24. References • http://www.myotonicdystrophysupportgroup.org • FRCA “Neuromuscular disorders and anaesthesia” (2009)http://www.frca.co.uk/Documents/126%20Neur omuscular%20disorders%20and%20anaesthesia.pdf • AAGBI Video Platform “Neuromuscular Disease”http://videoplatform.aagbi.org/videoPlayer/?v id=100 • http://mda.org/disease/myotonic-muscular- dystrophy/signs-and-symptoms/adult-onset-MMD • http://myotonic.org/sites/default/files/pages/files/Ane sthesia%20Guidelines.pdf

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