What is the mode of inheritance for CMT1A?

CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern . This pattern of inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder.

What is a CMT test looking for?

These tests measure the strength and speed of electrical signals transmitted through your nerves. Electrodes on the skin deliver small electric shocks to stimulate the nerve. Delayed or weak responses may indicate a nerve disorder such as Charcot-Marie-Tooth disease.

Are they working on a cure for CMT?

There is no cure for Charcot-Marie-Tooth disease. Nor have scientists come up with any approved therapies to address the underlying causes of the genetic neurological disorder.

Can CMT be passed from father to son?

This change is called a mutation. Some genetic mutations are hereditary, meaning they can be passed down from a parent to their child. CMT is caused by hereditary genetic mutations. But just because someone has CMT doesn’t mean they got it from one of their parents.

When is CMT usually diagnosed?

CMT can also directly affect the nerves that control the muscles. Progressive muscle weakness typically becomes noticeable in adolescence or early adulthood, but the onset of disease can occur at any age.

Can females get CMT?

Autosomal dominant conditions affect men and women equally, and both men and women have a 50% chance in each pregnancy of passing on the condition. If a child inherits the mutation, that child will have CMT and will have a 50% chance of passing it on again.

How is CMT1A diagnosed?

The diagnosis of CMT1A was based on the results of family history-taking and genetic testing for PMP22 duplication using fluorescence in situ hybridization (FISH, LSI Medience Corporation, Tokyo, Japan).

Can CMT go into remission?

Although there is no cure for CMT, there are treatments that can be used to effectively manage its symptoms. These treatments have allowed many people with the disease to lead active, productive lives. The main treatment for CMT involves working with an occupational or physical therapist.

Can CMT skip generations?

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.

What is the rarest type of CMT?

CMT 3 (Dejerine-Sottas syndrome) – a rare and severe type of CMT that affects the myelin sheath, causing severe muscle weakness and sensory problems to begin developing in early childhood.