Clinical

Congenital adrenal hyperplasia (CAH) is a lifelong condition that affects the adrenal glands, causing hormonal imbalances. For those with CAH, moving from pediatric to adult medical care is critical. But...

Duchenne muscular dystrophy (DMD) is a genetic disorder in which the muscles in the body weaken and break down over time. This is due to a mutation, or change, in...

Duchenne muscular dystrophy (DMD) is a rare genetic disorder that causes muscle weakness and degeneration that gets worse over time. It is the most common and, unfortunately, one of the...

Primary biliary cholangitis (PBC) is a lifelong condition. If you are facing a PBC diagnosis or have been living with PBC, you may feel a lot of uncertainty. Your healthcare...

Primary biliary cholangitis (PBC) is a long-term medical condition that impacts the liver. While PBC has no cure, treatments may help slow the disease. This may prevent complications or serious...

Primary biliary cholangitis (PBC) is a chronic condition that impacts the bile ducts in the liver. Although PBC primarily affects the liver, it can cause complications throughout the body. Many...

Primary biliary cholangitis (PBC) is a chronic condition that affects the liver. Chronic means that it lasts for life. It is also progressive, which means it can get worse over...

Congenital adrenal hyperplasia (CAH) is a group of rare genetic disorders that affect the adrenal glands. The adrenal glands are 2 walnut-sized organs located above the kidneys. They produce essential...

Motor neuron diseases (MNDs) are a class of diseases that affect certain important cells. These cells, called motor neurons, control the muscles that help with movement. Your body uses motor...

X-linked hypophosphatemia (XLH) is a chronic, progressive disease, so early diagnosis is important to stop symptoms from getting worse. XLH is diagnosed using a combination of blood, urine, and imaging...

Newborn screening (NBS) is a program in the United States that tests all babies for certain treatable medical conditions. Early detection and treatment with NBS is critical for children with...

X-linked hypophosphatemia (XLH) is a life-long condition in which the body does not process the nutrient phosphorus properly. Because phosphorus is necessary for a host of important functions, a wide...

Receiving a diagnosis of X-linked hypophosphatemia (XLH) can be challenging and overwhelming at first. Whether you are diagnosed as a baby, a child, or an adult, understanding your condition and...

X-linked hypophosphatemia (XLH) is a genetic condition. People with XLH have changes in a specific gene that affect how their body uses the mineral phosphorus (phosphate). These gene changes are...

X-linked hypophosphatemia (XLH) is a rare genetic disorder that affects the whole body. A person with XLH does not process the nutrient phosphorus properly but instead passes it out in...

X-linked hypophosphatemia (XLH) is a genetic disorder that affects how the body processes phosphorus (phosphate). Phosphorus is an essential mineral for healthy bones and growth. When XLH the body does...

People with X-linked hypophosphatemia (XLH) develop a wide range of symptoms such as weak bones and teeth, fractures, fatigue, and muscle weakness. This life-long condition requires treatment on several fronts...

X-linked hypophosphatemia (XLH) is a rare disorder that causes low phosphorus levels. This happens because people with this condition pass the mineral phosphorus in the urine rather than using it...

Young people living with a rare disease are living longer than ever. That’s the good news. The less-good news is that not many places exist for teens and caregivers to...

When your child lives with a rare disease, you expect to make regular visits to the doctor for care. But sometimes the unexpected happens, which could mean a trip to...