Health and Fitness

  Usher Syndrome Overview Usher syndrome is a rare inherited disorder that causes vision loss, hearing loss and, sometimes, balance issues. It happens because mutations (changes) in specific genes disrupt how hearing and vision develop during fetal development. Usher syndrome symptoms are often congenital (present at birth) or develop during childhood. Rarely, people with this condition develop symptoms as adults. There’s no cure for Usher syndrome, but there are many ways to manage its symptoms. Types of Usher syndrome There are 10 known mutations that lead to this disorder, and syndrome types vary depending on the different combinations of genetic mutations. But all types of Usher syndrome cause issues with hearing, vision and balance. The differences are when symptoms start and how severe those symptoms are. The three types of Usher syndrome are: Type 1: In this type, hearing loss and balance issues are present at birth. If your baby has this type of Usher syndrome, they have se...

Urticarial Vasculitis Overview Urticarial vasculitis is a rare form of vasculitis that causes itchy, painful hives on your skin. Vasculitis is any inflammation (swelling) that affects your blood vessels. Blood vessels are channels that carry blood throughout your body. They form a circuit that begins and ends at your heart. If you have vasculitis, your blood vessels swell and stretch. This makes it harder for blood to flow through them. Urticaria is the medical term for hives. Hives are raised red or discolored bumps (welts) on your skin. A healthcare provider might refer to hives as skin lesions. Urticarial vasculitis usually affects your skin, but it can also affect blood vessels connected to other areas of your body, including your: Joints. Heart. Kidneys. Eyes. Lungs. Depending on which symptoms you’re experiencing — and how severe they are — most people with urticarial vasculitis can manage their symptoms with medication. Visit a healthcare provider if you have hives on your skin ...

Urea Cycle Disorder Overview The urea cycle is a filtering process to remove toxic substances from your body and keep other substances that are good for you moving throughout your body. Urea (carbamide) is a substance made by your liver. The urea cycle begins when you eat. Your body breaks down (metabolizes) protein that comes from food in your diet and turns it into amino acids, which are the building blocks of proteins. Amino acids help your body build muscle, transport nutrients and keep your organs functioning. Digestion of proteins leads to waste products that turn into ammonia. Ammonia is toxic to your body. To remove ammonia, enzymes, which are proteins that produce chemical reactions, convert ammonia into urea. The following amino acids are in urea, along with ammonia: Arginine. Ornithine. Citrulline. Enzymes move urea through your blood and kidneys. The final step of the urea process is to pass (excrete) urea from your body in your pee (urine). What are the types of urea cycle...

HPV infection Overview HPV infection is a viral infection. There are more than 100 types of human papillomavirus (HPV). Some types of HPV infection cause skin growths called warts and some types of HPV infection can cause cancer. Most HPV infections don't lead to cancer. But some types of genital HPV can cause cancer of the lower part of the uterus that connects to the vagina, called the cervix. Other types of cancers have been linked to HPV infection. These include cancers of the anus, penis, vagina, vulva and back of the throat. Cancer at the back of the throat is called oropharyngeal cancer. These infections are often passed through sex or through other skin-to-skin contact. Vaccines can help protect against the strains of HPV most likely to cause genital warts or cervical cancer. Symptoms Usually, the body's immune system defeats an HPV infection before it creates warts. Different types of HPV produce different warts, including: Genital warts. Some appear flat. Others look...

Ullrich congenital muscular dystrophy Overview Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence. Symptoms of Ullrich congenital muscular dystrophy The first signs of UCMD may be seen at birth or are usually evident within the first year of life. These include poor head control and delays in reaching motor milestones such as sitting unaided, crawling, or walking. Failure to gain weight and grow at the expected rate are also often early symptoms. The severity of symptoms at onset and progression varies amongst those affected and depends on the specific change in the COL6 genes. Initial symptoms could be subtle and go unnoticed, and the diagnosis may not be made until infancy or childhood. Muscle weakness Muscle weakness is often noticeable soon after birth. Various muscle groups are affected, including the...

Ulnar clinodactyly syndrome Overview Clinodactyly is a minor bone malformation where your finger curves at the joint closest to your nail and bends toward your other fingers like a hook. It most often affects your fifth digit (pinky finger), but it can happen to any finger or toe. The curve is the result of your finger bone growing in a different shape than it should. It may be present at birth or it may happen as a result of injury to a growing finger in childhood. It’s normal for fingers to curve at an angle less than 10 degrees. Clinodactyly specifically refers to finger curves at angles greater than 10 degrees. Symptoms Symptoms of clinodactyly appear in a finger on your hand. The condition can be present at birth (congenital) even if symptoms aren’t noticeable until early childhood when the bones grow and start to mature. Clinodactyly could appear on one or both of your hands and on any one finger. The condition also affects toes. Symptoms of clinodactyly include: Finger curves li...