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ALG12-congenital disorder of glycosylation

ALG12-congenital disorder of glycosylation Overview ALG12-congential disorder of glycosylation (ALG12-CDG) is a rare, inherited multi-system condition caused by mutations in the ALG12 Gene, leading to intellectual disability, weak muscle tone, and immune issues Symptoms Growth and Neurological Signs Failure to thrive : Feeding difficulties and trouble gaining weight. Hypotonia: Weak or low muscle tone. Developmental delay: Delayed motor skills and moderate-to-severe intellectual disability. Seizures: Developing in some affected individuals.Microcephaly: Progressive small head size. Physical and Facial Features Facial dysmorphism: Prominent nasal bridge or forehead, epicanthal eye folds, and abnormally shaped or large ears. Skeletal abnormalities: Poor bone development and abnormal bone ossification. Genital abnormalities: Micropenis and undescended testes (cryptorchidism) in males. Immune and Other Complications Low antibodies: Hypogammaglobulinemia (reduced immunoglobulin G/IgG ...
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Aldosterone-producing adenoma

Aldosterone-producing adenoma Overview An aldosterone-producing adenoma (also called Conn's adenoma or aldosteronoma) is a benign tumor in an adrenal gland that overproduces the hormone aldosterone. This excess hormone causes primary hyperaldosteronism, leading to high blood pressure, low potassium levels, muscle weakness, and increased risk of heart problems. Symptoms People with an aldosteronoma typically have high blood pressure, but most don’t have any other symptoms. When low potassium levels result, however, people may experience one or more of the following symptoms related to their aldosteronoma: Muscle weakness or, rarely, episodes of muscle paralysis Muscle spasms and/or cramps Fatigue Headache Excessive thirst Excessive or frequent urination Waking up at night to urinate Numbness and/or tingling of hands and feet Causes Effects and Body Changes High blood pressure: Extra salt and water stay in the body, which raises blood pressure. Low potassium (hypokalemia): The kidn...
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Fundus albipunctatus

Fundus albipunctatus Overview Fundus albipunctatus is a rare, inherited eye disorder causing stationary night blindness and small whitish-yellow retinal flecks, primarily linked to mutations in the [RDH5 gene] (https://medlineplus.gov/genetics/condition/fundus-albipunctatus/). It features delayed dark adaptation and normal daytime vision. Symptoms Primary Vision Symptoms Night blindness : Trouble seeing clearly or moving around safely in dim light or at night, usually starting in early childhood. Slow dark adaptation: Severe delay in adjusting vision when moving from bright sunlight into a dark space (like walking into a dark room or driving into a tunnel), which can take hours instead of minutes. Normal bright light vision: Clear daytime visual acuity and normal side (peripheral) vision during standard conditions. Physical Eye Findings Retinal flecks: Countless tiny, round, white or yellowish-white spots scattered across the retina while sparing the central fovea region. Fading spot...
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Gastroesophageal reflux disease (GERD)

Gastroesophageal reflux disease (GERD) Overview Gastroesophageal reflux disease happens when stomach acid flows back up into the esophagus and causes heartburn. It's often called GERD for short. This backwash is known as acid reflux, and it can irritate the lining of the esophagus. Many people experience acid reflux now and then. However, when acid reflux happens repeatedly over time, it can cause GERD. Most people can manage the discomfort of GERD with lifestyle changes and medicines. And though it's uncommon, some may need surgery to help with symptoms. Symptoms Common symptoms of GERD include: A burning sensation in the chest, often called heartburn. Heartburn usually happens after eating and might be worse at night or while lying down. Backwash of food or sour liquid in the throat. Upper belly or chest pain. Trouble swallowing, called dysphagia. Sensation of a lump in the throat. If you have nighttime acid reflux, you also might experience: An ongoing cough. Inflammation of...
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Crohn's disease

Crohn's disease Overview Crohn's disease is a type of inflammatory bowel disease (IBD) that causes swelling and irritation of the tissues, called inflammation, in the digestive tract. This can lead to belly pain, severe diarrhea, fatigue, weight loss and malnutrition. Inflammation caused by Crohn's disease can affect different areas of the digestive tract in different people. Crohn's most commonly affects the end of the small intestine and the beginning of the large intestine. The inflammation often spreads into the deeper layers of the bowel. Crohn's disease can be both painful and debilitating. Sometimes, it may lead to serious or life-threatening complications. There's no known cure for Crohn's disease, but therapies can greatly reduce its symptoms and even bring about long-term remission and healing of inflammation. With treatment, many people with Crohn's disease can function well. Symptoms Symptoms of Crohn's disease typically include: Diarrhea...
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Motion Sickness

Motion Sickness Overview What is motion sickness? Motion sickness is a condition that happens when your eyes, inner ear and body send conflicting messages to your brain. You can develop the condition whenever your body is staying still but you’re being moved by a vehicle, like when you’re riding in a car or standing on a boat deck. Some people get a kind of motion sickness while playing video games and virtual reality games (virtual motion sickness or VMS). Symptoms include nausea, breaking out in cold sweat or headache. Fortunately, there are ways to prevent motion sickness or ease its symptoms. Symptoms Motion sickness symptoms can develop slowly or appear all at once. Common symptoms include: Dizziness. Fatigue. Headache. Feeling irritable. Nausea and vomiting. Rapid breathing or feeling like you need to take gulps of air. Salivating more than usual. Sweating, particularly a cold sweat. Causes Motion sickness happens when your brain gets conflicting messages from the parts of your b...
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Helicobacter pylori (H. pylori) infection

Helicobacter pylori (H. pylori) infection Overview A Helicobacter pylori infection is a common stomach infection. It's caused by a germ called Helicobacter pylori, a bacteria also known as H. pylori. More than half the people in the world may have an H. pylori infection at some point in their lives. These infections often happen during childhood, especially in developing countries. H. pylori germs seem to spread through contact with an infected person's bodily fluids, including vomit, stool or saliva. This includes contact that happens through poor hand hygiene. The germs also can spread through tainted food and water. H. pylori infections can cause stomach pain, bloating, gas and other symptoms. But most people who become infected don't have symptoms. Sometimes, H. pylori infections lead to sores called peptic ulcers in the lining of the stomach or small intestine. Much less often, these infections can lead to stomach cancer. Your healthcare professional likely will test y...
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