FAQ

What is Huntington's Disease?

Huntington’s disease (HD) is an inherited neurodegenerative disorder that affects motor, cognitive and psychiatric functions of the body. It is described as a blend of Parkinson’s, ALS and Alzheimer’s.

Does Huntington's Disease have a cure?

It is currently an incurable disease (meaning that there are not any ways to slow, stop, or reverse progression)

What are some of the symptoms of HD?

"Motor: The hallmark motor feature in adults is a form of random, excessive movement called chorea. Other motor manifestations can include another type of involuntary movement called dystonia, and imbalance/incoordination. Over time, speech and swallowing function becomes impaired. Cognitive: Multiple aspects of cognition can be affected, such as processing speed, organization and planning, attention, memory, and language.
Psychiatric: Common symptoms include depression and anxiety."

What is the age of on-set?

The age at which symptoms begin is variable, though after onset there is steady progression of the disease

What is HD caused by?

Huntington’s disease is caused by a type of gene mutation called a repeat expansion, in which a short segment of the HTT gene expands in length. If this expansion reaches a certain size (or a certain number of repeats), it will cause disease.

Can HD be passed down genetically to a parents child?

Yes, everyone has 2 copies of the HTT gene, with one copy inherited from each parent. Individuals affected with HD will have the expansion (or mutation) in one of their two copies of the gene. Because of this, individuals who carry the mutation causing HD have a 50% chance of passing on the abnormal HTT gene to each of their children.

What is genetic testing and how does it work?

Genetic testing is available to identify if an individual has the gene mutation that causes HD. This can be used to give a definitive diagnosis if a person develops symptoms. This can also be tested in asymptomatic individuals who have a parent with HD and are thus at risk of developing the disease. Without an available cure, identifying this gene mutation before symptom onset does not change treatment, however. Therefore, there are many factors to consider before undergoing testing.

What is PGT-IVF?

PGT-IVF stands for preimplantation genetic testing (PGT) in-vitro fertilization (IVF) and this process can ensure future parents that their child will not inherit the HD gene mutation. PGT-M looks for the presence of a specific, disease-causing gene such as HTT (Huntington's). It does not involve selection of any other traits or characteristics.

Can someone who does not know their genetic test results go through PGT-IVF?

Yes - PGT-IVF can be accomplished with or without the individual at risk undergoing predictive testing

Can someone who does not want to know their genetic test results go through PGT-IVF?

Yes - Some individuals may want to pursue PGT without knowing their HD status. This can be done through Non-Disclosure PGT. Again, this is done in conjunction with IVF.

How does preimplantation genetic testing (PGT) work?

During this process, embryos will be tested for the HD mutation before implantation. Only unaffected embryos will be transferred and used for pregnancy. This ensures that children of an affected individual will not be at risk for HD.

Why is PGT so important to our foundations mission?

PGT-IVF is the only current scientific breakthrough that can completely wipe out the Huntington gene and make a difference immediately to eradicate the disease. PGT-IVF is the only way for parents to ensure their biological child is HD-free.