Health and Fitness

Narcolepsy Overview Narcolepsy is a condition that makes people very sleepy during the day and can cause them to fall asleep suddenly. Some people also have other symptoms, such as muscle weakness when they feel strong emotions. The symptoms can have serious effects on daily life. People with narcolepsy have trouble staying awake for long periods of time. When narcolepsy causes a sudden loss of muscle tone, it is known as cataplexy (KAT-uh-plek-see). This can be triggered by a strong emotion, especially one that causes laughter. Narcolepsy is divided into two types. Most people with type 1 narcolepsy have cataplexy. Most people with type 2 narcolepsy don't have cataplexy. Narcolepsy is a lifelong condition and does not have a cure. However, medicines and lifestyle changes can help manage the symptoms. Support from family, friends, employers and teachers can help people cope with the condition. Symptoms The symptoms of narcolepsy may get worse during the first few years. Then they c...

Mitochondrial Diseases Overview Mitochondrial diseases are a group of conditions that affect how mitochondria work in your body. Mitochondria make energy in your cells. When mitochondria aren’t able to produce enough energy that your body needs, it affects how your organs function. Mitochondrial diseases can affect almost any part of your body, including the cells of your: Brain. Nerves. Muscles. Kidneys. Heart. Liver. Eyes. Ears. Pancreas. What are the types of mitochondrial disease? There are many types of mitochondrial diseases. Some of the most common include: Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. Leber hereditary optic neuropathy (LHON). Leigh syndrome. Kearns-Sayre syndrome (KSS). Myoclonic epilepsy and ragged-red fiber disease (MERRF). Symptoms Symptoms of mitochondrial diseases vary based on the type and location of the affected cells. They can range from mild to severe and could include: Poor growth. Muscle weakness, muscle pa...

 Uterus Didelphys Overview Uterus didelphys is a rare condition where a person develops two uteruses. It’s also called a double uterus. A double uterus is a congenital abnormality that you are born with. Your two uterine cavities are narrower than the cavity of a typical uterus. Each uterus has its own fallopian tube and ovary. A uterus starts as two ducts in a developing fetus. Eventually, these ducts join together to create the uterus. Your uterus is one hollow organ and looks like an upside-down pear. If you have uterus didelphys, the two ducts don’t join together. Instead, each duct creates its own uterus, which means you have two. Some people with a double uterus may also have two cervixes and two vaginal canals. Instead of having a pear-shaped uterus, if you have uterus didelphys, your uteruses resemble bananas. Symptoms Most people don’t know they have uterus didelphys because it doesn’t cause any symptoms. Instead, it’s discovered during a routine pelvic exam or during inve...

Microcephalic primordial dwarfism (MPD) overview Microcephalic primordial dwarfism (MPD) is a group of rare genetic disorders causing severe growth restriction before and after birth, resulting in extremely small stature and head size (microcephaly), alongside skeletal issues (osteodysplasia) and other distinctive features, with MOPD II being the most common type, linked to PCNT gene mutations and known for vascular complications like aneurysms. Other types, like MOPD I, involve RNU4ATAC gene defects, causing severe CNS issues and often early death, while MOPD II patients often have normal intelligence but face serious health risks, including strokes.  Type MOPD Type I (MOPD I) Genetics: Caused by mutations in the RNU4ATAC gene. Key Features: Severe brain malformations (cerebral hypoplasia, agenesis of corpus callosum), severe microcephaly, limb deformities, skin issues, and very poor prognosis, often leading to early death.  MOPD Type II (MOPD II) Genetics : Caused by mutati...

  Marfan syndrome Overview Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening. Treatment usually includes medications to keep your blood pressure low to reduce the strain on your aorta. Regular monitoring to check for damage progression is vital. Many people with Marfan syndrome eventually require preventive surgery to repair the aorta. Symptoms The signs and symptoms of Marfan syndrome can vary greatly, even among members of the same family, because the disorder can affect so many d...

Lysosomal Storage Diseases Overview Lysosomal storage diseases or disorders (LSDs) are rare genetic conditions that cause a buildup of toxic materials in your body’s cells. People with LSDs lack certain enzymes or a substance that helps the enzyme work (enzyme activator or modifier). Without functioning enzymes, your body can’t break down fats and sugars and other substances. If those build up in your body, they can be harmful. Lysosomal storage diseases usually appear during pregnancy or soon after birth. More rarely, adults may develop LSDs. People usually have more severe cases when an LSD starts early and more mild cases when an LSD starts later. There are no cures for lysosomal storage diseases. But treatments can help you to manage your symptoms and lessen damage to organs and tissues. How do enzymes and lysosomes work? Enzymes assist your cells’ lysosomes with metabolism. They cause chemical reactions to help the lysosomes break down: Carbohydrates (fiber, starches and sugars). ...