Health and Fitness

 Low potassium Hypokalemia is when the amount of potassium in your blood is too low. Normal levels of potassium for an adult range from 3.5 to 5.2 mEq/L (3.5 to 5.2 mmol/L). Anything lower than 3 mEq/L (3 mmol/L) may be considered severe hypokalemia. Potassium is an electrolyte. Electrolytes are minerals that carry an electric charge when they’re dissolved in your bodily fluids. Your body needs potassium for your cells, muscles and nerves to function correctly. Your body gets potassium through the food you eat. Your kidneys remove excess potassium through your urine (pee) to keep a proper balance of the mineral in your body. You need potassium to keep your muscles, nerves and heart working well. You also need potassium for a healthy digestive system and bone health. Low levels of potassium can affect these important functions in your body. Over time, low levels of potassium in your body can cause effects such as abnormal heart rhythms, muscle weakness and even paralysis. Symptoms M...

  Hyperhidrotic Ectodermal Dysplasia OVERVIEW Hyperhidrotic ectodermal dysplasia (HED) is a rare inherited multisystem disorder that belongs to the group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, sweat glands, and/or skin. HED is primarily characterized by partial or complete absence of certain sweat glands (eccrine glands), causing lack of or diminished sweating (anhidrosis or hypohidrosis), heat intolerance, and fever; abnormally sparse hair (hypotrichosis), and absence (hypodontia) and/or malformation of certain teeth. Many individuals with HED also have characteristic facial abnormalities including a prominent forehead, a sunken nasal bridge (so-called “saddle nose”), unusually thick lips, and/or a large chin. The skin on most of the body may be abnormally thin, dry, and soft with an abnormal lack of pigmentation (hypopigmentation). However, the skin around the eyes (periorbital) may be darkly pigmented (hyperpigm...

 Hypochondroplasia Overview Hypochondroplasia is a type of skeletal dysplasia or a condition that affects cartilage. Cartilage is connective tissue that protects your bones. It results in short-limbed dwarfism. For hypochondroplasia, a genetic change prevents cartilage from turning into bone (ossification) in the long bones in your arms and legs. Physical characteristics of the condition include short stature, bowed legs and broad hands and feet along with a larger head size. Symptoms are rarely noticeable until toddlerhood to early school-age years. The exact frequency of hypochondroplasia is unknown. Studies show that hypochondroplasia may occur at a similar rate as achondroplasia, which is a more severe form of the condition. The estimated rate of occurrence is 1 in 15,000 to 40,000 newborns around the world Symptoms Several physical characteristics lead to a hypochondroplasia diagnosis. Symptoms vary from person to person and could include: Short stature. Large head. Short arms...

Hyperprolinemia Type I OVERVIEW Two types of hyperprolinemia are recognized by physicians and clinical researchers. Each represents an inherited inborn error of metabolism involving the amino acid, proline. Hyperprolinemia Type I (HP-I) is characterized by high levels of proline in the blood resulting from a deficiency of the enzyme proline oxidase, which is key to the breakdown (metabolism) of proline. There are often no clinical manifestations of HP-1. Hyperprolinemia II (HP-II) is a rare metabolic disorder that results from the deficiency of the enzyme known as delta-pyrroline-5-carboxylate (P-5-C) dehydrogenase. This disorder results in more severe clinical manifestations than are seen in HP-I, and may be associated with mild mental retardation and seizures.   SIGNS & SYMPTOMS Hyperprolinemia Type I is characterized by an abnormally high level of the amino acid proline in the blood. Fevers associated with seizures are common and mild mental retardation may be present. CAUSE...

Moebius Syndrome Overview Moebius syndrome is a neurological disorder that’s present at birth (congenital). It happens when certain cranial nerves don’t develop as they should during pregnancy. It causes several medical conditions and issues, but the primary issues are weak or paralyzed facial muscles that affect facial expression and eye movement. The condition is very rare. An estimated 2 to 20 in 1 million babies are born with this condition. Healthcare providers can’t cure Moebius syndrome. They can, however, do surgery to restore facial expression and repair eye issues and other physical differences that the syndrome causes. Most people with the syndrome have a typical lifespan. Symptoms Moebius syndrome causes many symptoms, but the most common and significant symptom is weakness in the facial muscles that control facial expression, eye movement, sucking and swallowing. Babies born with this condition have issues feeding because they can’t nurse or take a bottle. They can’t smile...

  Hypersensitivity Pneumonitis Overview Hypersensitivity pneumonitis (HP) is a type of allergic reaction that causes inflammation in your lungs. Bacteria, fungi, animal and plant proteins, and other allergens can cause HP. Acute hypersensitivity pneumonitis can get better, but chronic hypersensitivity pneumonitis can cause irreversible lung damage and scarring. Hypersensitivity pneumonitis (HP) is a type of allergy that causes inflammation in the small air sacs of your lungs (alveoli). Your symptoms can be immediate (acute) and go away quickly, or they may develop over time and become ongoing (chronic). Chronic hypersensitivity pneumonitis is considered an interstitial lung disease. It can lead to lung scarring over time. You’re at higher risk for hypersensitivity pneumonitis if you work in certain occupations or are around specific allergens. You’re more likely to develop HP if you: Work on a farm (for instance, with cattle or vegetables). Handle animals (veterinarians, bird or po...

Hyperostosis Frontalis Interna OVERVIEW Hyperostosis Frontalis Interna is characterized by the thickening of the frontal bone of the skull. It is not clear that this disorder is actually rare. Some clinicians believe that it may be a common abnormality found in as many as 12 percent of the female population. The disorder may be found associated with a variety of conditions such as seizures, headaches, obesity, diabetes insipidus, excessive hair growth and sex gland disturbances. Increased serum alkaline phosphatase and elevated serum calcium may occur. SYMPTOMS The major feature of Hyperostosis Frontalis Interna is excessive growth or thickening of the frontal bone of the head. This excess growth can only be seen in an x-ray. As a result, scientists feel that this condition may be much more prevalent than suspected, but often goes undetected. Many people have no apparent symptoms. Other conditions that may be found in patients with this disorder are: obesity, a condition in which secon...

Hyperlipoproteinemia Type III OVERVIEW Hyperlipoproteinemia type III is a genetic disorder that causes the body to breakdown (metabolize) fats (lipids) incorrectly. This results in the buildup of lipids in the body (hyperlipidemia) and can lead to the development of multiple small, yellow skin growths (xanthomas). Affected individuals may also develop the buildup of fatty materials in the blood vessels (atherosclerosis) blocking blood flow and potentially leading to heart attack or stroke. Hyperlipoproteinemia type III affects 1-5,000 to 1 in 10,000 people in the general population. Without treatment, affected individuals are 5-10 times more likely to develop cardiovascular disease. SYMPTOMS The symptoms of hyperlipoproteinemia type III may vary from person to person. Some individuals may not show any symptoms (asymptomatic). Symptoms of hyperlipoproteinemia type III often do not appear unless additional conditions are present such as diabetes, obesity, or hypothyroidism. The most comm...

Hyperferritinaemia-cataract syndrome Overview Hyperferritinaemia is a condition in which the body has an excess of ferritin – a protein involved in storing iron, due to its ability to bind to it. Excess ferritin is a marker of iron overload diseases, such as haemochromatosis. Whether associated with another disease or not, hyperferritinaemia can have one serious complication: cataracts. Mutations in the ferritin-light chain (FTL) gene gives rise to this rare disorder, known as Hyperferritinaemia-cataract syndrome. Symptoms The only symptom of hyperferritinaemia that we know of is the early development of cataracts. Hyperferritinaemia-cataract syndrome usually begins between the second and fourth decades of the patient’s life, but has been reported developing in young children and in patients over 40. Cataracts usually only develop in after the age of 60, and involve the lenses of the eyes becoming cloudy and opaque, hampering, or even disabling vision. Cataracts tend to get progressive...

Hyperekplexia OVERVIEW Hyperekplexia is a rare hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero). It may also affect children and adults. Individuals with this disorder have an excessive startle reaction (eye blinking or body spasms) to sudden unexpected noise, movement, or touch. Symptoms include extreme muscle tension (stiffness or hypertonia) that prevent voluntary movement and can cause the affected person to fall stiffly, like a log, without loss of consciousness. Exaggeration of reflexes (hyperreflexia), and an unstable way of walking (gait) may also occur. Hyperekplexia is usually inherited as an autosomal dominant trait, but autosomal recessive or rarely, X-linked inheritance, has also been reported. Hyperekplexia is frequently misdiagnosed as a form of epilepsy so the process of getting an accurate diagnosis may be prolonged Treatment is relatively uncomplicated and involves the use of anti-anxiety and anti-spastic me...