Health and Fitness

Biotinidase Deficiency Overview Biotinidase deficiency (BTD) deficiency is a treatable, inherited condition. BTD affects the way the body processes a vitamin called biotin (sometimes called vitamin H). Biotin is an important vitamin that helps the body break down protein, fats, and carbohydrates. Biotinidase is an enzyme that helps recycle biotin to be reused by the body. Bitotinidase deficiency happens when this enzyme this isn’t working properly. BTD is caused by genetic changes (mutations) in the BTD gene. If untreated, BTD can cause health problems such as: Seizures Muscle weakness (hypotonia) Problems with controlling body movements (ataxia) Developmental delay Problems with vision and hearing BTD can have other features as well, including skin differences like rashes (eczema) and hair loss (alopecia). BTD can be treated by giving people with the condition extra biotin for their body to use. If treated early, people with BTD can avoid all symptoms of the condition and lead a norma...

Becker naevus What is Becker naevus? A Becker naevus (nevus in American English) is a late-onset epidermal naevus or birthmark characterised by a large brown patch and occurs mostly in males. Also referred to as Becker melanosis and Becker pigmentary hamartoma, it is an overgrowth of the epidermis (upper layers of the skin), pigment cells (melanocytes), and hair follicles. It develops during childhood or adolescence, usually on the shoulders or upper trunk but occasionally found elsewhere Who gets Becker naevus? More common in males with an incidence  ratio of 5:1 Estimated prevalence among males is 0.5% Can occur in all skin types Usually presents in the second or third decade of life What causes Becker naevus? While the exact aetiology is unknown, it is thought that a currently unidentified gene defect may be the cause. Its development may be triggered by circulating androgens (such as testosterone), which may explain why it appears in males at puberty. Becker melanosis is not kn...

Retinoblastoma Overview Retinoblastoma is a kind of eye cancer that starts as a growth of cells in the retina. The retina is the light-sensitive lining on the inside of the eye. The retina is made up of nerve tissue that senses light as it comes in through the front of the eye. The light causes the retina to send signals to the brain. The brain interprets the signals as images. Retinoblastoma happens most often in young children. It's usually diagnosed before age 2. It most often affects one eye. Sometimes it happens in both eyes. There are several treatments for retinoblastoma. For most children, treatment doesn't require removing the eye to get rid of the cancer. The outlook for children diagnosed with retinoblastoma is quite good. Types of retinoblastoma There are three types of retinoblastoma: Unilateral: This means “one-sided,” so it affects one eye only. Bilateral: This means “two-sided,” so it affects both eyes. Trilateral: This means you have cancer in three places. E...

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) Overview Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic disorder that increases your risk of getting tumors. It’s part of a group of conditions called PTEN hamartoma tumor syndrome (PHTS). PHTS includes both Cowden syndrome and BRRS. BRRS usually happens when there’s a mutation (change) in your PTEN gene. Your PTEN gene produces proteins that slow the growth of tumors. Because people with BRRS have a damaged PTEN gene, many develop hamartomas (tumor-like growths) and other noncancerous and cancerous tumors. They also have an increased risk of developing cancers. Other symptoms may include high birth weight, macrocephaly (large head), freckles on your penis, and various developmental and intellectual delays. Other names for Bannayan-Riley-Ruvalcaba syndrome include: Riley-Smith syndrome. Ruvalcaba-Myhre syndrome. Ruvalcaba-Myhre-Smith syndrome. Bannayan-Zonana syndrome. Symptoms Bannayan-Riley-Ruvalcaba syndrome symptoms vary significantly...

 Ataxia Overview Ataxia describes poor muscle control that causes clumsy movements. It can affect walking and balance, hand coordination, speech and swallowing, and eye movements. Ataxia usually results from damage to the part of the brain called the cerebellum or its connections. The cerebellum controls muscle coordination. Many conditions can cause ataxia, including genetic conditions, stroke, tumors, multiple sclerosis, degenerative diseases and alcohol misuse. Certain medicines also can cause ataxia. Treatment for ataxia depends on the cause. Devices such as walkers and canes might help maintain independence. These also are called adaptive devices. Physical therapy, occupational therapy, speech therapy and regular exercise also might help. Symptoms Ataxia symptoms can develop over time or start suddenly. Ataxia can be a symptom of several nervous system conditions. Symptoms may include: Poor coordination. Walking unsteadily or with the feet set wide apart. Poor balance. Trouble...

 Amyloid Neuropathy Amyloidosis is a rare disease characterized by a buildup of abnormal amyloid deposits in the body. Amyloid deposits can build up in the heart, brain, kidneys, spleen and other parts of the body. A person may have amyloidosis in one organ or several. Types of Amyloidosis Light-chain (AL) amyloidosis can affect the kidneys, spleen, heart, and other organs. People with conditions such as multiple myeloma or a bone marrow illness called Wadenström’s macroglobulinemia are more likely to have AL amyloidosis. AL starts in plasma cells within the bone marrow. Plasma cells create antibodies with both heavy chain and light chain proteins. If the plasma cells undergo abnormal changes, they produce excess light chain proteins that can end up in the bloodstream. These damaged protein bits can accumulate in the body’s tissues and damage vital organs such as the heart. AA amyloidosis is caused by fragments of amyloid A protein, and affects the kidneys in about 80 percent of ca...

 Alkaptonuria Alkaptonuria is a rare inherited disorder. It occurs when your body can’t produce enough of an enzyme called homogentisic dioxygenase (HGD). This enzyme is used to break down a toxic substance called homogentisic acid. When you don’t produce enough HGD, homogentisic acid builds up in your body. The buildup of homogentisic acid causes your bones and cartilage to become discolored and brittle. This typically leads to osteoarthritis, especially in your spine and large joints. People with alkaptonuria also have urine that turns dark brown or black when it’s exposed to air. Symptoms Dark stains on a baby’s diaper are one of the earliest signs of alkaptonuria. There are few other symptoms during childhood. Symptoms become more obvious as you age. Your urine may turn dark brown or black when it’s exposed to air. By the time you reach your 20s or 30s, you may notice signs of early-onset osteoarthritis. For example, you may notice chronic stiffness or pain in your lower back o...