Below is a summary for the DYNC1H1 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is DYNC1H1-related syndrome?
DYNC1H1-related syndrome happens when there are changes to the DYNC1H1 gene. These changes can keep the gene from working as it should.
The DYNC1H1 gene plays a key role in the basic function of the cell.
Symptoms can vary widely. Because the DYNC1H1 gene is important in the development and function of brain cells, many people who have DYNC1H1-related syndrome have:
- Neuromuscular issues
- Intellectual disability
People who have DYNC1H1-related syndrome have different types of gene changes. This can affect which symptoms they have.
Do people with DYNC1H1-related syndrome look different?
Appearance can vary. In a few cases, people who have DYNC1H1-related syndrome may look different.
More than 30 percent of those who have DYNC1H1-related syndrome have spinal muscular atrophy, a disorder in which the muscles used for movement are weak or waste away.
7 percent have muscle weakness or low muscle tone at birth or in infancy, known as congenital myopathy.
4 percent have autism as a primary diagnosis.
Research Article Summaries