ThinkGenetic strives to create, update, and review content regularly to ensure the information we provide is accurate, referenced, and available 24/7 to anyone searching for answers on genetic conditions and diseases. You can see all our covered diseases in the Diseases List, and you can do this by Browsing Alphabetically or By Type.
Below are the most recent content updates.
✎ New Addition: Argininemia
Argininemia is a rare genetic disorder. People with it have problems with an enzyme called arginase I. This enzyme is missing, not working as well, or damaged. The arginase I enzyme has a job. It is part of what is called the urea cycle. The urea cycle is series of biochemical reactions that occur in the body to help to break down (metabolize) and remove extra nitrogen from the body. Nitrogen is obtained from the diet and is a normal waste product when protein is broken down. Nitrogen is broken down into a compound called urea, which is comes out from the body in the urine. People with argininemia cannot properly break down the amino acid arginine, which is one of the steps in the urea cycle. An amino acid is a building block of protein. Because people with argininemia cannot break down arginine, arginine and nitrogen build up in the body (in the form of ammonia). Learn More >>
✎ New Addition: Charcot-Marie-Tooth disease (CMT)
Charcot-Marie-Tooth disease, also called CMT, is a group of genetic disorders that affect the peripheral nerves. These are the nerves outside of central nervous system (the brain and spinal cord). The peripheral nerves carry messages from the brain to muscles and sensory cells throughout the body. CMT affects both motor and sensory nerves. Motor nerves cause muscles to contract and allow people to do things like walk or talk. Sensory nerves have cells, or receptors, that respond to different forms of input (stimuli) and send information to the brain. For example, sensory nerves in the skin respond to touch, pressure, vibration, temperature, and pain. The most common symptoms of CMT happen because the peripheral nerves don’t work properly. These include slow degeneration of muscles in the feet and legs, causing muscle weakness and cramps. There may also be a mild loss of sensation in the feet and legs. The symptoms of CMT can differ among people with this disorder, and this is even true for people in the same family. Some people never even realize they have CMT, while others may have some moderate disability due to symptoms. There can be very severe symptoms in some people. Most people have some symptoms, but life expectancy is usually not reduced by having CMT. The symptoms often get worse, although usually very slowly. As the disease progresses, people may begin to sprain their ankles often, trip and fall often, and they may have a high arch to the bottom of their feet, or toes that bend upward at the middle joint (hammertoes). Often, the hands become involved, leading to muscle weakness in the hands. This can cause problems with daily tasks like turning doorknobs or fastening buttons. Some people experience pain and fatigue as well. Rare forms of CMT may cause more severe symptoms and affect other systems of the body. Symptoms usually begin in the teens or early adulthood, but can also start years later or earlier. There are many different forms of CMT and changes (mutations) in different genes can cause this group of genetic disorders. There is no cure, but there are a variety of treatments to help manage the symptoms. Learn More >>
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[Batch Update: 2017-06-20, 2017-06-13]