Charcot-Marie-Tooth Disease

1. Charcot-Marie-Tooth Disease • Azita Maserrat MD, Anesthesia Resident at SBMU December, 17, 2012

2. Case Report

3. The 29-year-old woman underwent anesthesia for orthopedic procedure. • A history of lower-limbs sensory and motor problems started when she was 11 years old. • Muscular atrophy and deformity in upper and lower extremities. • Sensorineural hearing loss from 5 years ago. • She had to use braces for walking.

6. No past medical history. • No drug history. • Family history in two cousins. • No previous surgery.

7. Lab Data: CBC, coagulation tests, biochemistry and electrolytes all was normal. • Patient’s monitoring: • Temperature • ECG • SPO2 • ETCO2 • NIBP • Vital Signs: • BP= 120/80PR= 84/minRR= 12/minT= 37

9. Dantrolene • TIVA • A ventilator unpolluted by volatile anesthetics, with oxygen.

10. Premedication: • Midazolam (1 mg)Fentanyl (100 µg) • Induction: • Propofol (140 mg)Atracurium (30 mg) • Airway Management and mechanical ventilation: • LMA #4IPPV: TV (0.5 L), RR (12/min) • Maintenance: • O2 (4L/min)Propofol (40 mg/hr)No need to repeat atracurium.

11. Surgery consists of two operations: • A triple arthrodesis (surgical fusion of the talocalcaneal (TC), talonavicular (TN), and calcaneocuboid (CC) joints in the foot). • Achilles tendon elongation.

14. Total time of surgery: 120 min. • Total IV fluid: 1500 mL. • Reverse of neuromuscular blockade: • Atropine: 1.25 mg • Neostigmine: 2.5 mg

15. After the intervention, on recovering ability to follow verbal commands, trachea was extubated. • During the postoperative period, the saturation fell to 90% as a result of slight hypopnea. • The patient remained in recovery room for about 2 hours before transferring to ward. • Monitoring in recovery room: • ECG • SPO2 • ETCO2 • NIBP

16. Discussion

17. Charcot-Marie-Tooth disease • Inherited neuropathies, first described in 1886. • Characterized by degeneration of the motor and sensory nerve fibers. • The most common form of inherited peripheral neuropathies (prevalence of 1 in 2500).

18. Slowly progressive distal and symmetrical muscle weakness and atrophy ("stork-leg" appearance) in combination with sensory problems. • Muscles of hands and forearms affected later.

19. Common features are foot deformities: • Hammertoes • Pes cavus • These symptoms often cause steppage gait.

22. Depending on the severity and the penetrance of the disease some patients become wheelchair-bound in late disease stages.

23. CMT can be divided into: • A hypertrophic demyelinating neuropathy (CMT type 1) • Axonal degeneration (CMT type 2)

24. MRI image at the level of midline patella: Diffuse enlargement of the sciatic (solid arrow) and tibial (dotted arrow) nerves. Sagittal image: Diffuse enlargement of the sciatic nerve (solid arrow)

25. Most patients with CMT present with one of three phenotypes, based on the age at symptom onset: • Classic phenotype • Infantile phenotype • Adult onset

26. Classic Phenotype • The most common. • Develop weakness or sensory loss during the first two decades of life. • Impairment slowly increases thereafter. • Patients rarely require ambulation aids beyond ankle-foot orthoses.

27. Infantile Phenotype • Do not begin walking until they are at least 15 months of age. • Severely affected and are likely to require above-the-knee bracing, walkers, or wheelchairs by 20 years of age.

28. Adult onset • Do not develop symptoms of CMT until adulthood, often not until approximately 40 years of age.

29. No medical treatment. • A multidisciplinary approach can optimize care and improve the lives of patients with these disorders. • Physical therapy • Occupational therapists • Orthopedic procedures

30. Anesthesia Considerations

31. Anesthesia is administered on this population more frequently than on normal people (orthopedic surgeries). • Aims: • prevention and prompt treatment of potential complications.

32. Malignant hyperthermia? • Prolonged responses to neuromuscular blocking drugs • Avoidance of a medication-induced exacerbation of neuropathy

33. CMTD and Hypnotics • Increased sensitivity to thiopental at induction that correlates with the severity of both motor and sensory defects.

34. CMTD and Muscle relaxants • A prolonged effect. • Previous reports have cautioned against SCH use in CMTD, but it can be used safely. • The response to succinylcholine is reduced. • The risk of an exaggerated hyperkalemic response. • Atracurium and mivacurium are not shown to have a prolonged effect in these patients.

35. Cardiac Problems • Conduction disturbances • Atrial flutter • Cardiomyopathy

36. Pulmonary Complications • Very few patients developed pulmonary complications (pneumonia). • In the past, pulmonary involvement in CMTD was thought to be uncommon. • But respiratory muscles may be affected, with a restrictive lung pattern predominating.

37. Patients may have few or no symptoms despite considerable abnormalities in pulmonary function. • The presence of proximal muscle weakness of the arms may be a predictor for respiratory muscle weakness.

38. Hearing Loss • CMT disease is relevant in the differential diagnosis of sensorineural hearing loss, particularly if hereditary hearing loss is suspected. • Specialists should be aware of the possible association between hearing loss and CMT disease.

39. Pain Management • Pain management is a concern for many patients. • Joint pains may respond to anti-inflammatory medications.

40. Neuropathic pain with burning or tingling of feet and legs affects about 20% of patients with various forms of CMT. • Treatment for these patients is similar to treatment of neuropathic pain in other neuropathies.

41. CMTD and Pregnancy • CMTD may be associated with an entirely normal pregnancy in early or mild disease. • A potential for significant morbidity exists if the disease is advanced and in later pregnancy.

42. Exacerbation of CMTD during pregnancy is known to occur. • Increasing weakness may be temporary or persistent. • Exacerbations are usually recurrent in subsequent pregnancies.

43. Among patients with subjective disabilities from childhood or youth, the risk of exacerbation in at least one pregnancy is 50%. • No influence in pregnancy in patients with adult-onset CMTD.

44. More common: • Instrumental deliveries (because of muscle fatigue and maternal exhaustion) • Postpartum hemorrhage and presentation anomalies • No evidence that CMTD is associated with any deleterious fetal outcome.

45. Effective analgesia in the form of an epidural may be beneficial in avoiding muscle fatigue in the first stage of labour.

46. CNS Problems • Abnormal brain MRI • Transient or episodic CNS symptoms • Abnormal brain stem auditory-evoked responses.

47. Scoliosis in Patients with CMTD • In one­ third of patients. • It differs from that in patients with idiopathic scoliosis. • Thoracic hyperkyphosis • Bracing is usually unsuccessful

48. CMTD and Electroconvulsive Therapy • ECT can safely be performed in patients suffering from both Charcot-Marie-Tooth disease and pharmacotherapy-resistant psychiatric disorders.

49. Medications List

50. Definite High Risk • Vinca alkaloids (Vincristine)