Is Charcot-Marie-Tooth disease duplication?

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Sporadic cases of CMT have been described since the earliest reports of the disease. The most frequent form of the disorder, CMT1A, is associated with a 1.5-Mb DNA duplication on chromosome 17p11. 2, which segregates with the disease.

Can you have both CMT and Hnpp?

An extra argument for considering this a separate disease entity is that PMP22 point mutations can phenotypically lead to CMT as well as HNPP or even an overlap between the two phenotypes.

Can Charcot-Marie-Tooth skip a generation?

CMT does not skip generations genetically. For people with autosomal dominant and X-linked conditions, a person will either have the condition or not. If a parent has CMT that has been genetically confirmed, a child can be tested when that child is at least 18 years of age and with appropriate genetic counseling.

Is Charcot-Marie-Tooth related to MS?

Over the past 20 years, several reports have linked CMT with MS in individual patients. In the case of CMT1A, by far the most common form of CMT, four cases with concomitant MS have been reported. 9–11 There have also been single case reports of MS in other rare forms of CMT.

Is Charcot-Marie-Tooth a disability?

Medically Qualifying Under A Disability Listing: CMT is a form of peripheral neuropathy, meaning it affects the nerves and muscles in the arms, legs, hands, and feet. The Social Security Administration (SSA) has a standard disability listing for this type of neurological disorder.

What type of CMT is HNPP?

What is HNPP? Hereditary neuropathy with liability to pressure palsies (HNPP) is a type of Charcot-Marie-Tooth disease that occurs when one of the two copies of the PMP22 gene is deleted.

Is CMT more common in males or females?

Because GJB1 and these other known and unknown genes that cause CMTX are located on the X-chromosome, CMTX primarily affects males, however in CMTX1 and CMTX6 feature an X-linked dominant inheritance with males being more severely affected than females.

Is CMT multiple sclerosis?

In the last 20 years, several studies have linked CMT with multiple sclerosis, an immune-mediated neurodegenerative disorder characterized by the loss of the myelin sheath that protects nerve cells.