This particular form of MD has many features, such as short height, cataracts (eye problems causing it hard to see), and intellectual disability, that are similar to other disorders. The overlap has caused confusion for physicians and researchers, until now. An international group of researchers were able to show that mutations (changes) in the INPP5K gene are responsible for a unique form of MD.
“Families and physicians have been searching for the origins of this rare disorder for years,” says Dr. Chiara Manzini, one of the researchers. “Children with a similar combination of symptoms had been described in the medical literature before, but it was unclear whether or not it was a new disease. Now we know it’s a variant of MD that affects other organs.”
Muscular dystrophy is a group of disorders that causes muscle weakness and muscle loss over time. Most people with MD are eventually unable to walk. More than 250,000 Americans are affected by the approximately 30 forms of MD and other related neuromuscular disorders. MD is inherited, meaning it is passed down from parents to their children.
How does this research help families?
Identifying a target gene, such as the INPP5K gene, reduces uncertainty for families. It allows parents to receive a precise diagnosis instead of not knowing what condition their child may have. In addition, knowing their child’s exact disorder can help families understand which medical specialists should be consulted and it can aid in overall clinical management.It gives hope to families that new, targeted treatments may become available in the future. Finally, a specific diagnosis will help health care providers better understand the disease and how it affects a child throughout his life.
“This is a great example of collaborative, innovative genetic research that has an immediate benefit to babies and their families,” says Joe Leigh Simpson, MD, senior vice president for Research and Global Programs at the March of Dimes. “Studying rare disorders can also teach us more about common conditions that affect millions of people in the United States and around the world.
Have questions? Text or email us at [email protected].