Health and Fitness

X-Linked Adrenoleukodystrophy Overview X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder that affects the white matter of the nervous system and the adrenal cortex. White matter is made up of nerve fibers called axons that relay nerve impulses from one cell to another. These nerve fibers are covered by myelin, an insulating layer or sheath that protects the nerve fibers. Myelin is made up of proteins and fats and gives white matter its white color. Without myelin, the signals between nerve cells cannot be transmitted properly, resulting in neurological symptoms. The adrenal cortex is the outer layer of cells of the adrenal glands. The adrenal glands sit atop the kidneys and produce hormones that are vital to proper health and development including cortisol and the sex hormones. Many of those affected experience serious neurological problems either during childhood or during adulthood with rather different types of disabilities. Some affected individuals also have adrenal i...

  Xanthinuria Overview Xanthinuria is a rare genetic disorder characterized by a deficiency in the enzyme xanthine dehydrogenase/oxidase (XDH/XO), resulting in high xanthine levels and low uric acid in blood/urine. It often causes xanthine kidney stones, renal failure, and sometimes muscle pain, though many cases are asymptomatic Symptoms Kidney Stones (Xanthine Urolithiasis): The most common symptom, occurring in about 50% of patients. Hematuria: Blood in the urine. Urinary Tract Infections: Recurrent infections. Renal Issues: Acute renal failure, renal colic, and in rare cases, chronic kidney failure. Muscle Symptoms : Muscle pain and cramping (myalgia/arthropathy). Other Symptoms: Irritability, vomiting, and failure to thrive (particularly in children). Asymptoma tic: Some individuals, roughly 20%, may not experience any symptoms Causes Type I Xanthinuria: Caused by a mutation in the XDH gene alone, leading to deficiency of the xanthine dehydrogenase enzyme.  Type II Xa...

Xanthelasma Overview Xanthelasma (cholesterol deposits) under the skin around the eyes. Xanthelasma, or cholesterol deposits, under the skin. What is xanthelasma? Xanthelasma, or xanthelasma palpebrarum (XP), is a harmless, yellow growth that appears on or by the corners of your eyelids next to your nose. Cholesterol deposits build up under your skin to form a xanthelasma. Having xanthelasmas could be a sign of another condition, such as: Diabetes. Hyperlipidemia (high cholesterol). Thyroid problems. Researchers have found that having xanthelasmas means it’s very likely that you’ll have these conditions in the future: Heart disease. Heart attack. Atherosclerosis (even if your cholesterol levels are normal). High cholesterol. Who does xanthelasma affect? Half of the people with xanthelasmas have high cholesterol levels. Healthcare providers usually see these levels in people with the kind of high cholesterol you get from your parents or some liver diseases. However, the other 50% of peo...

Wolfram Syndrome Overview What is Wolfram syndrome? Wolfram syndrome is a rare genetic disease. It’s a progressive, neurodegenerative disorder that damages your brain and other tissues in your body. A series of symptoms usually appear during childhood and into adulthood. Diabetes and vision changes before age 15 are usually the first symptoms. Eventually, impaired brain function can lead to early death. What are the types of Wolfram syndrome? Healthcare providers have identified two genes involved in Wolfram syndrome. Genes are sequences of DNA that carry genetic information. People with Wolfram syndrome have changes (mutations) in their genes. Healthcare providers classify Wolfram syndrome based on the affected genes: Wolfram syndrome type 1 is the result of a mutation of the WFS1 gene. Wolfram syndrome type 2 is the result of a mutation of the WFS2 (CISD2) gene. How is Wolfram syndrome inherited? To pass on Wolfram syndrome, usually both biological parents must carry the same gene ...

Wiskott-Aldrich Syndrome Overview What is Wiskott-Aldrich syndrome? Wiskott-Aldrich syndrome is a rare genetic condition that affects the function of your child’s immune system and cells. It causes symptoms that include: Eczema. Immune deficiency. Bleeding and bruising. This condition can lead to life-threatening complications and a short life expectancy. But treatment options help prevent these risks. How common is Wiskott-Aldrich syndrome? There are an estimated 3 per million males diagnosed with Wiskott-Aldrich syndrome. In the United States, this equals less than 5,000 people. This condition is rare but extremely unlikely among females. What is a WAS-related disorder? Your healthcare provider may refer to Wiskott-Aldrich syndrome as a WAS-related disorder. A WAS-related disorder affects the immune system and results from a genetic change of the WAS gene. X-linked thrombocytopenia is WAS-related. A healthcare provider may identify congenital neutropenia after serious bacterial infec...

Werner Syndrome Overview What is Werner syndrome? Werner syndrome is a rare genetic disorder that causes premature aging. You might also hear it called adult progeria. Signs of Werner syndrome aren’t usually noticeable until you reach puberty when you stop growing as rapidly as expected. Then, as you enter your 20s, you’ll start developing characteristics — and, in time, health conditions — associated with older age. And Werner syndrome isn’t just about graying hair and sagging skin. Aging isn’t just a cosmetic process. Many people with Werner syndrome experience life-threatening complications of aging by their 40s or early 50s. Symptoms Signs and symptoms of Werner syndrome become noticeable as you become an adult. In your 20s, you’ll notice more signs of early aging than your same-age peers. These may include: Hair graying and hair loss, including the eyebrows and eyelashes. High-pitched or hoarse voice. Loss of subcutaneous adipose tissue, the layer of fat directly beneath your skin...