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What is Charcot-Marie-Tooth disease, Type 4E?

What is Charcot-Marie-Tooth disease, Type 4E?

  • Charcot-Marie-Tooth disease, Type 4E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.

Charcot-Marie-Tooth disease, Type 4E is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Charcot-Marie-Tooth disease, Type 4E, or a subtype of Charcot-Marie-Tooth disease, Type 4E, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Charcot-Marie-Tooth disease, Type 4E: Introduction

Types of Charcot-Marie-Tooth disease, Type 4E:

Broader types of Charcot-Marie-Tooth disease, Type 4E:

What causes Charcot-Marie-Tooth disease, Type 4E?

Causes of Charcot-Marie-Tooth disease, Type 4E: see causes of Charcot-Marie-Tooth disease, Type 4E

What are the symptoms of Charcot-Marie-Tooth disease, Type 4E?

Symptoms of Charcot-Marie-Tooth disease, Type 4E: see symptoms of Charcot-Marie-Tooth disease, Type 4E

Onset of Charcot-Marie-Tooth disease, Type 4E: birth

Charcot-Marie-Tooth disease, Type 4E: Testing

Diagnostic testing: see tests for Charcot-Marie-Tooth disease, Type 4E.

Misdiagnosis: see misdiagnosis and Charcot-Marie-Tooth disease, Type 4E.

How is it treated?

Doctors and Medical Specialists for Charcot-Marie-Tooth disease, Type 4E: Medical Geneticist ; see also doctors and medical specialists for Charcot-Marie-Tooth disease, Type 4E.
Treatments for Charcot-Marie-Tooth disease, Type 4E: see treatments for Charcot-Marie-Tooth disease, Type 4E

Name and Aliases of Charcot-Marie-Tooth disease, Type 4E

Main name of condition: Charcot-Marie-Tooth disease, Type 4E

Other names or spellings for Charcot-Marie-Tooth disease, Type 4E:

CMT4E, neuropathy, congenital hypomyelinating, Charcot-Marie-Tooth neuropathy, type 4E, CHN, dysmyleinating heuropathy, congenital, hypomyelinating polyneuropathy, congenital, Congenital hypomyelinating neuropathy (CHN)

CMT 4E, Congenital hypomyelinating neuropathy (CHN)
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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