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Charcot-Marie-Tooth disease (CMT), also known as Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN) and peroneal muscular atrophy (PMA) - is a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is one of the most common inherited neurological disorders affecting approximately 1 in 2,500 people equating to approximately 23,000 people in the United Kingdom and 125,000 people in the USA.

CMT was previously classified as a subtype of muscular dystrophy.

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13y ago

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You just found out your 7 yr old grandson has CMT does that mean that your 2 week old granddaughter will get it too?

Charcot-Marie-Tooth disease (CMT) is a genetic disorder, and its inheritance can vary. If your grandson has a hereditary form of CMT, there is a possibility that his sibling, your granddaughter, could inherit it as well, depending on the specific genetic mutation involved. It’s essential to consult a genetic counselor for a more accurate assessment of the risk based on family history and genetic testing.


How is CMT diagnosed?

Definitive diagnosis of CMT is made only by genetic testing, usually performed by drawing a small amount of blood.


Is Treatment of genetic disease the same as genetic treatment of disease?

no but as I see it treatment of genetic disease is treating a genetic problem as a genetic treatment of a disease is using genetics to stop a certain disease that can be treated with genetics


Is chickenpox genetic?

Chickenpox is an infectious disease, not a genetic disease


How definitive is Nat testing?

Definitive diagnosis of CMT is made only by genetic testing


What are the characteristics of a genetic disease?

A genetic disease is a disease that was either passed onto you and/or your family is known to get that disease. An example of a genetic disease would be CF (Cystic Fibrosis). It occurs when a cell changes it's genetic information.


What is the mutated gene of the Charcot-Marie-Tooth disease?

CMT is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different forms of CMT disease, all of the mutations affect the normal function of the peripheral nerves. The gene mutations in CMT disease are usually inherited.


Is leprosy a genetic disease?

Known as Hansen's Disease, it is not genetic, but caused by an organism.


Is presymptomatic testing possible for detecting genetic disease?

Depends on the disease. With some, the genetic condition that causes the disease has been identified, and genetic testing can determine if you have the disease before symptoms appear.


Is degenerative disease inherited disease or genetic disease?

inherited


What are some genetic diseases?

one genetic disease is sickle cell disease. another is thallasemia.


What types of disease is cystic fibrosis?

Cystic fibrosis is an autosomal recessive genetic disease. A+ neuromuscular disease