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Alpha-Mannosidosis

Alpha-Mannosidosis Overview Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3). The symptoms and severity of the disorder are highly variable. Symptoms may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability and dysfunction of the immune system. Alpha-mannosidosis is caused by changes (variants or mutations) in the MAN2B1 gene. This condition is inherited in an autosomal recessive pattern. Alpha-mannosidosis belongs to a group of diseases known as the lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that function as the primary digestive units. Enzymes within the lysosomes break down...
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Alpers-Huttenlocher syndrome

Alpers-Huttenlocher syndrome Overview Alpers disease is a rare mitochondrial disease that affects your brain, liver and muscles. Alpers disease leads to: Dementia. Liver failure. Seizures. You can show symptoms of Alpers disease anytime between ages 1 month and 36 years. But symptoms usually start in early childhood, most commonly between ages 2 and 4. Others may develop the disease later, usually between ages 17 and 24. This condition is most often fatal. Defects in a gene cause Alpers disease, an inherited disorder passed down through families. You have Alpers disease from birth, but people usually don’t notice symptoms for weeks or years. Other names for Alpers disease include: Alpers-Huttenlocher syndrome. Alpers syndrome. Diffuse cerebral degeneration in infancy. Progressive cerebral poliodystrophy. Progressive infantile poliodystrophy. Symptoms Seizures (refractory epilepsy) are usually the first symptom to appear. The other main symptoms are: Liver disease. Slowing down of think...
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Allergic Asthma

Allergic Asthma Overview What is allergic asthma? Allergic or allergy-induced asthma is a condition where your airways tighten when you breathe in an allergen. Most often, these allergens are in the air — like dust mites, pollen, animal dander or mold spores. When you have allergies, your body creates a response to something it thinks is a threat — the allergen. Your immune system fires up all of its defenses to try and fight off this danger. Your immune system releases various chemicals that cause inflammation, or swelling, and squeezing of your airways upon exposure to an allergen Symptoms What are the symptoms of allergic asthma? If you have allergic asthma, you may have many of the same symptoms you’d experience with other types of asthma. These symptoms can include: Feeling short of breath. Coughing frequently, especially at night. Wheezing (a whistling noise during breathing). Experiencing chest tightness (feeling like something is pressing on your chest). Allergen exposure can a...
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Glossophobia

Glossophobia What is glossophobia? Glossophobia isn’t a dangerous disease or chronic condition. It’s the medical term for the fear of public speaking. And it affects as many as four out of 10 Americans. For those affected, speaking in front of a group can trigger feelings of discomfort and anxiety. With this can come uncontrollable trembling, sweating, and a racing heartbeat. You may also have an overwhelming urge to run out of the room or away from the situation that is causing you stress. Glossophobia is a social phobia, or social anxiety disorder. Anxiety disorders go beyond occasional worrying or nervousness. They cause strong fears that are out of proportion to what you’re experiencing or thinking about. Anxiety disorders often get worse over time. And they can interfere with your ability to function under some circumstances. What does glossophobia feel like? When faced with having to give a presentation, many people experience the classic fight-or-flight response. This is the bod...
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Vitamin K2 deficiency

Vitamin K2 deficiency Overview Vitamin K2 deficiency can lead to excessive bleeding, weak bones, and hardened blood vessels. While rare in healthy adults, it can result from poor diet, gut absorption problems, or certain medicines Symptoms Bleeding and Clotting Signs Easy bruising: Developing large or unexplained bruises from minor bumps. Prolonged bleeding: Bleeding that takes a long time to stop from small cuts, nosebleeds, or bleeding gums.Hidden bleeding: Passing dark, tar-like black stools or noticing blood in urine. Small clots: Tiny blood clots forming underneath your fingernails or toenails. Bone and Heart Signs Weak bones: Lower bone density that can lead to a higher risk of fractures or osteoporosis over time. Dental issues: Teeth that may become more prone to decay or poor mineralization. Vascular calcification: Long-term buildup of calcium in soft tissues and arteries, which affects heart health. Causes Poor diet: Eating few animal products or fermented foods like natt...
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Allan–Herndon–Dudley syndrome

Allan–Herndon–Dudley syndrome Overview Allan–Herndon–Dudley syndrome is a rare genetic brain development disorder caused by mutations in the MCT8 gene, characterized by moderate-to-severe intellectual disability, severe movement issues, and abnormal thyroid hormone blood levels. It affects males almost exclusively due to its X-linked inheritance pattern. Symptoms Neurological and Physical Symptoms Delayed Development: Severe intellectual disability and lack of speech development or aphasia. Muscle and Movement Changes : Early weak muscle tone in infancy changing into muscle stiffness (spasticity), abnormal muscle wasting (hypoplasia), and involuntary movements like twisting or jerking (dystonia and choreoathetosis). Mobility Loss: Most affected males never learn to walk or sit unsupported, becoming wheelchair-bound by adulthood. Joint and Skeletal Issues: Tight joints (contractures), scoliosis, and chest shape abnormalities develop as children grow older.Infant  Feeding Problems...
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Mycosis fungoides

Mycosis fungoides Overview Mycosis fungoides is a rare type of lymphoma that mainly affects the skin. Lymphoma is a cancer that begins in the lymphocytes, which are a type of white blood cell. The white blood cells are part of the body's germ-fighting immune system. There are many types of lymphoma. These types are often divided into two categories: Hodgkin lymphoma and non-Hodgkin lymphoma. Mycosis fungoides is a type of non-Hodgkin lymphoma. Mycosis fungoides got its name from the appearance of some of its skin growths, which may look like mushrooms. Mycosis fungoides got its name from the mushroom like look of some of its skin growths. It is not caused by a fungus. It begins in white blood cells called T cells, also called T lymphocytes. The T cells undergo changes and turn into cancer cells. In mycosis fungoides, the T cells attack the skin. Mycosis fungoides is one of a few types of lymphoma that affect T cells in the skin, called cutaneous T-cell lymphomas. Mycosis fungoides ...
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