195. Charcot-Marie-Tooth Disease

Question 1

Who described Charcot-Marie-Tooth (CMT) disease and in what year?

Answer 1

Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth in 1886.

Question 2

What is the prevalence of Charcot-Marie-Tooth (CMT) disease?

Answer 2

Approximately 1:2500.

Question 3

What is another name for Charcot-Marie-Tooth disease?

Answer 3

Hereditary motor and sensory neuropathy.

Question 4

List the main types of Charcot-Marie-Tooth disease.

Answer 4

• Type 1 (CMT1; hypertrophic or demyelinating)
• Type 2 (CMT2; neuronal or axonal)
• Type 3 (Dejerine-Sottas disease)
• X chromosome–linked forms
• Complex forms.

Question 5

Which type of Charcot-Marie-Tooth disease is the most common?

Answer 5

CMT1, with 70% being CMT1A.

Question 6

What are the key characteristics of Charcot-Marie-Tooth disease?

Answer 6

• Genetic heterogeneity
• Age-dependent penetrance
• Variable expressivity.

Question 7

What patterns of inheritance are observed in Charcot-Marie-Tooth disease?

Answer 7

• Autosomal dominant (AD)
• Autosomal recessive
• X-linked.

Question 8

What mutation is primarily responsible for CMT1A?

Answer 8

A duplication of chromosome 17 containing the PMP 22 gene.

Question 9

What is the primary cause of CMT2A?

Answer 9

Mutations in Mitofusin 2 (MFN2).

Question 10

What is a hallmark symptom of Charcot-Marie-Tooth disease?

Answer 10

Pes cavus (high-arched feet) and hammertoes.

Question 11

What are common symptoms in the early stages of Charcot-Marie-Tooth disease?

Answer 11

• Skeletal muscle weakness
• Atrophy
• Loss of tendon reflexes.

Question 12

What nerve conduction velocities define CMT1 and CMT2?

Answer 12

• CMT1: MCVs less than 38 m/s
• CMT2: MCVs greater than 38 m/s.

Question 13

What classic histological finding is associated with CMT1?

Answer 13

Onion bulb formation.

Question 14

What is the focus of treatment for Charcot-Marie-Tooth disease?

Answer 14

Management of symptoms through supportive care.

Question 15

What types of medications can be used for neuropathic pain in CMT patients?

Answer 15

• Antiepileptic drugs (gabapentin, pregabalin, topiramate)
• Tricyclic antidepressants (amitriptyline).

Question 16

True or False: There is a specific cure for Charcot-Marie-Tooth disease.

Answer 16

False.

Question 17

What potential cardiopulmonary anomalies should be considered preoperatively in CMT patients?

Answer 17

• Cardiac conduction anomalies
• Long QT syndrome
• Atrial flutter
• Cardiomyopathy.

Question 18

What anesthetic considerations are important for CMT patients?

Answer 18

• Avoid succinylcholine due to potential hyperkalemia
• Continuous monitoring of neuromuscular blockade.

Question 19

What should be monitored postoperatively in CMT patients with suspected respiratory impairment?

Answer 19

Complications related to pulmonary function.

Question 20

Fill in the blank: Charcot-Marie-Tooth disease is primarily characterized by _______.

Answer 20

[genetic heterogeneity, age-dependent penetrance, and variable expressivity].

Question 21

What is the role of nerve conduction studies in diagnosing CMT?

Answer 21

To differentiate between CMT1 (demyelinating) and CMT2 (axonal).

Question 22

What are the common early manifestations of sensory system involvement in CMT?

Answer 22

• Loss of vibration sense
• Loss of joint position sense
• Decreased pain and temperature sensation.

Question 23

What are the effects of caffeine and nicotine for CMT patients?

Answer 23

They can aggravate fine intentional tremor associated with CMT disease.

Question 24

What are the potential research areas for CMT treatment?

Answer 24

• Gene therapy
• Trophic factors
• Nerve growth factors.