One of the leading causes of infant death is a genetic disease called spinal muscular atrophy, also known as SMA. While SMA is genetic, most people are unaware of the risk of having a child with SMA until they either have a child with this disorder or their SMA...
A person who has a disease-causing variant — also known as a mutation — in one of their two copies of a particular gene is known as a carrier. Carrier screening for specific genetic conditions is a routine part of prenatal care, but patients and providers are...
Approximately 200,000 people in the United States are at risk for Huntington disease because they have a parent with the condition. If you are among those at risk, you know that family planning is a complicated prospect. People with Huntington disease, or at risk for...
Some 5.7 million Americans are living with Alzheimer’s disease. For the vast majority of them, the disease is the result of an unpredictable perfect storm of lifestyle and genetic factors. But a small minority of people who have Alzheimer’s disease — fewer...
What Is Spinocerebellar Ataxia? Ataxia is the loss of muscle coordination and can be acquired or genetic: The spinocerebellar ataxias (SCAs) are a group of hereditary ataxias. The SCAs are rare disorders that can involve the cerebellum and other parts of the central...