Charcot-Marie-Tooth Disease Questions & Answers

Updated: Apr 01, 2019
  • Author: Divakara Kedlaya, MBBS; Chief Editor: Vinod K Panchbhavi, MD, FACS  more...
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Questions & Answers

Overview

How is Charcot-Marie-Tooth (CMT) characterized?

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

What is Charcot-Marie-Tooth (CMT) disease?

What is Charcot-Marie-Tooth (CMT) disease type 1?

What is the pathophysiology of Charcot-Marie-Tooth (CMT) disease type 1?

What causes onion bulb appearance in Charcot-Marie-Tooth (CMT) disease type 1?

What is Charcot-Marie-Tooth (CMT) disease type 2?

What is Charcot-Marie-Tooth (CMT) disease type 3?

What are Charcot-Marie-Tooth (CMT) disease types X and 4?

What causes Charcot-Marie-Tooth (CMT) disease?

What are the subtypes of hereditary motor and sensory neuropathy (HMSN) I?

What is hereditary motor and sensory neuropathy (HMSN) III?

What is hereditary motor and sensory neuropathy (HMSN) IV?

What are the subtypes of hereditary motor and sensory neuropathy (HMSN) II?

What are hereditary motor and sensory neuropathies (HMSNs) V, VI, and VII?

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

What is the prevalence of Charcot-Marie-Tooth (CMT) disease in Japan, Italy, and Spain?

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

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

What is the Charcot-Marie-Tooth (CMT) disease neuropathy score?

What is the role of genetic counseling in patient education for Charcot-Marie-Tooth (CMT) disease?

Which drugs and medications should patients with Charcot-Marie-Tooth (CMT) disease avoid?

What activity modifications are beneficial in the management of Charcot-Marie-Tooth (CMT) disease?

How does obesity affect patients with Charcot-Marie-Tooth (CMT) disease?

What is the role of stretching in the management of Charcot-Marie-Tooth (CMT) disease?

Presentation

What is characteristic about the history of patients with Charcot-Marie-Tooth (CMT) disease?

Which factor affects the age of presentation of Charcot-Marie-Tooth (CMT) disease?

What is the manifestation of muscle weakness in Charcot-Marie-Tooth (CMT) disease?

How does muscle weakness progress in Charcot-Marie-Tooth (CMT) disease?

What are the symptoms of structural foot abnormalities in Charcot-Marie-Tooth (CMT) disease?

What are the symptoms of hand muscle weakness in Charcot-Marie-Tooth (CMT) disease?

Do patients with Charcot-Marie-Tooth (CMT) disease experience numbness?

Do patients with Charcot-Marie-Tooth (CMT) disease experience pain or muscle cramping?

What are the autonomic symptoms of Charcot-Marie-Tooth (CMT) disease?

Which physical findings suggest distal muscle wasting in Charcot-Marie-Tooth (CMT) disease?

Which bony abnormalities suggest Charcot-Marie-Tooth (CMT) disease?

What is the prevalence of spinal deformities in patients with Charcot-Marie-Tooth (CMT) disease?

How are deep tendon reflexes (DTRs) affected in Charcot-Marie-Tooth (CMT) disease?

What is the role of a Romberg test in the diagnosis of Charcot-Marie-Tooth (CMT) disease?

What are possible complications of Charcot-Marie-Tooth (CMT) disease?

What are the complications of Charcot-Marie-Tooth (CMT) disease during delivery?

DDX

Which conditions should be considered in the differential diagnoses of Charcot-Marie-Tooth (CMT) disease?

What are the differential diagnoses for Charcot-Marie-Tooth Disease?

Workup

What is the role of routine lab tests in the evaluation of Charcot-Marie-Tooth (CMT) disease?

What is the role of DNA tests in the diagnosis of Charcot-Marie-Tooth (CMT) disease?

What is the role of genetic tests in the diagnosis of Charcot-Marie-Tooth (CMT) disease?

Which genetic tests are available for the diagnosis of Charcot-Marie-Tooth (CMT) disease?

What is the role of ultrasonography (US) in the workup of Charcot-Marie-Tooth (CMT) disease?

What is the role of magnetic resonance imaging (MRI) in the workup of Charcot-Marie-Tooth (CMT) disease?

What is the role of electromyography (EMGs) in the workup of Charcot-Marie-Tooth (CMT) disease?

What are the Harding and Thomas criteria for the diagnosis of Charcot-Marie-Tooth (CMT) disease type 1?

Which electromyographic (EMG) results are characteristic of Charcot-Marie-Tooth (CMT) disease?

What are the nerve conduction velocities (NCVs) for Charcot-Marie-Tooth (CMT) disease type 1?

Which nerve conduction velocities (NCVs) are characteristic of neuronal types of Charcot-Marie-Tooth (CMT) disease?

What is the role of nerve biopsy in the workup of Charcot-Marie-Tooth (CMT) disease?

Which nerve biopsy findings suggest Charcot-Marie-Tooth (CMT) disease type 1?

Which nerve biopsy findings suggest Charcot-Marie-Tooth (CMT) disease type 2?

Which histologic findings suggest Charcot-Marie-Tooth (CMT) disease?

Treatment

Which physicians should be included in a multidisciplinary approach to management of Charcot-Marie-Tooth (CMT) disease?

Why should patients with Charcot-Marie-Tooth (CMT) disease be treated by a multidisciplinary team?

Can nonoperative treatments reverse or slow Charcot-Marie-Tooth (CMT) disease?

What treatments may provide mechanical stability for patients with Charcot-Marie-Tooth (CMT) disease?

What is the role of surgery in the treatment of Charcot-Marie-Tooth (CMT) disease?

What are the surgical options for correction of flexible cavus feet in Charcot-Marie-Tooth (CMT) disease?

Which surgical procedures are used in the treatment of Charcot-Marie-Tooth (CMT) disease?

What is the initial procedure for the treatment of Charcot-Marie-Tooth (CMT) disease?

What is the role of posterior tibial tendon transfer in the treatment of Charcot-Marie-Tooth (CMT) disease?

What is the role of soft-tissue release in the surgical treatment of Charcot-Marie-Tooth (CMT) disease?

What is the role of the Coleman block test in the treatment of Charcot-Marie-Tooth (CMT) disease?

What are the indications for surgical correction of the hindfoot in Charcot-Marie-Tooth (CMT) disease?

What is the role of triple arthrodesis in the treatment of Charcot-Marie-Tooth (CMT) disease?

How are children with Charcot-Marie-Tooth (CMT) disease and supple hindfeet treated?

How are children with Charcot-Marie-Tooth (CMT) disease and rigid hindfoot deformities treated?

What is the role of Akron dome osteotomy in the treatment of Charcot-Marie-Tooth (CMT) disease?

What is the efficacy of triple arthrodesis for the treatment of Charcot-Marie-Tooth (CMT) disease?

What is the efficacy of soft-tissue procedures in the treatment of Charcot-Marie-Tooth (CMT) disease?

How are spinal deformities in children with Charcot-Marie-Tooth (CMT) disease treated?

How are joint contractures and deformities prevented in Charcot-Marie-Tooth (CMT) disease?

What are the benefits of Charcot-Marie-Tooth (CMT) disease genetic counseling?

How can MT-ATP6 mutations be identified in Charcot-Marie-Tooth (CMT) disease?

What is included in long-term monitoring of Charcot-Marie-Tooth (CMT) disease?

Medications

Which medications are used in the treatment of Charcot-Marie-Tooth (CMT) disease?

What is the role of prednisone in the treatment of Charcot-Marie-Tooth (CMT) disease?

What is the role of ascorbic acid (vitamin C) in the treatment of Charcot-Marie-Tooth (CMT) disease?

Which medications in the drug class Analgesics are used in the treatment of Charcot-Marie-Tooth Disease?

Which medications in the drug class Anticonvulsants are used in the treatment of Charcot-Marie-Tooth Disease?

Which medications in the drug class Tricyclic antidepressants are used in the treatment of Charcot-Marie-Tooth Disease?

Which medications in the drug class Cyclooxygenase-2 inhibitors are used in the treatment of Charcot-Marie-Tooth Disease?

Which medications in the drug class Nonsteroidal anti-inflammatory drugs are used in the treatment of Charcot-Marie-Tooth Disease?