Health and Fitness

  Hereditary Sensory and Autonomic Neuropathy Type 1E OVERVIEW Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) is a rare genetic disorder. It is considered an adult-onset disorder with symptoms usually starting to occur in the 20-30’s. Although HSAN1E is considered to be a subtype of HSAN, a group of genetic disorders most-ly affecting the sensory and autonomic neurons of the peripheral nervous system, the central nervous system is also severely affected in HSAN1E patients, especially in the later stage of the disease. HSAN1E patients usually have three main symptoms, hearing loss, sensory neu-ropathy, and cognitive decline (dementia), and many have other various symptoms such as sleep disorders and epilepsy. The symptoms are progressive, worsening with age. At this time, there are no available treatments other than management for each specific symptom, (i.e., hearing aids for the hearing loss) and there is currently no cure for HSAN1E. Based on a re-cent study, the av...

  Hereditary Orotic Aciduria OVERVIEW Hereditary orotic aciduria is an extremely rare genetic disorder. When untreated, affected infants can develop a blood (hematologic) disorder called megaloblastic anemia as well as failure to thrive, susceptibility to infection, and orotic acid crystals in the urine (crystalluria) resulting from excretion of orotic acid in the urine. Impaired neurological development has been observed, but invariably, especially since a treatment has become available. Because so few individuals have been identified with this disorder, much about hereditary orotic aciduria is not fully understood. The disorder is caused by variations in the UMPS gene. In 2015, the U.S. Food and Drug Administration (FDA) approved a treatment called uridine triacetate (Xuriden) for this disorder SYMPTOMS Some affected infants develop megaloblastic anemia, a condition in which the bone marrow produces unusually large, structurally-abnormal, immature red blood cells (megaloblasts). ...

 Hereditary Nonspherocytic Hemolytic Anemia OVERVIEW Hereditary nonspherocytic hemolytic anemia refers to a group of conditions for which the main feature is the premature destruction of red blood cells. Red blood cells move oxygen throughout the body. Premature destruction of red blood cells is called hemolytic anemia. “Nonspherocytic” means the red blood cells are not sphere-shaped like normal red blood cells, and “hereditary” means the conditions are inherited. There are over 16 conditions that fall under the category of hereditary nonspherocytic hemolytic anemia, but they all share these common features. For some people, symptoms are present at birth, but for others, symptoms do not appear until adulthood. SYMPTOMS People with hereditary nonspherocytic hemolytic anemia may experience yellowing of the skin (jaundice), tiredness, a large spleen (splenomegaly) and/or liver (hepatomegaly). Lab findings People with anemia may have the following results in bloodwork: increase in imma...

 Hereditary Neuralgic Amyotrophy Overview Hereditary neuralgic amyotrophy (HNA) is a rare genetic disorder characterized by recurrent episodes of severe pain in the shoulder and arm. In most cases, pain may persist for a few hours to a few weeks and is followed by wasting and weakness of the muscles (amyotrophy) in the affected areas. Additional symptoms including distinct facial features and skeletal abnormalities may also be present. HNA involves the brachial plexus, the interweaving network of nerves that extend from the spine through the neck, into each armpit and down the arms. These nerves control movements and sensations in the shoulders, arms, elbows, wrists and hands. They also control the opening and closing of small blood vessels in the skin, as in response to outside temperature. The number and frequency of episodes can vary greatly from one person to another. Approximately, 75% of affected individuals will have at least one recurrent episode. The severity of the disord...

  Hereditary Leiomyomatosis and Renal Cell Carcinoma OVERVIEW Hereditary Leiomyomatosis and renal cell carcinoma, also known as HLRCC, is a rare genetic disorder characterized by smooth muscle growths (leiomyomas) on the skin and uterus and an increased risk of developing kidney (renal) cancer. Skin growths may appear as appear as small, firm bumps (papules) or tiny lumps (nodules) and are not cancerous (benign). Uterine leiomyomas, also known as uterine fibroids, may be numerous and are also benign, but can cause symptoms such as heavy menstrual periods or pelvic pressure or pain. Affected individuals are at an increased risk of developing kidney cancer, particularly a form known as type II papillary renal cell carcinoma. Kidney cancer associated with HLRCC is cancerous (malignant) and can be aggressive and spread (metastasize) to other areas of the body. HLRCC is caused by mutations in the fumarate hydratase (FH) gene and is inherited in an autosomal dominant pattern. HLRCC is cl...

 Peripheral neuropathy Overview Peripheral neuropathy happens when the nerves that are located outside of the brain and spinal cord (peripheral nerves) are damaged. This condition often causes weakness, numbness and pain, usually in the hands and feet. It also can affect other areas and body functions including digestion and urination. The peripheral nervous system sends information from the brain and spinal cord, also called the central nervous system, to the rest of the body through motor nerves. The peripheral nerves also send sensory information to the central nervous system through sensory nerves. Peripheral neuropathy can result from traumatic injuries, infections, metabolic problems, inherited causes and exposure to toxins. One of the most common causes of neuropathy is diabetes. People with peripheral neuropathy usually describe the pain as stabbing, burning or tingling. Sometimes symptoms get better, especially if caused by a condition that can be treated. Medicines can re...

  Hereditary Multiple Osteochondromas OVERVIEW Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced range of motion. Hereditary multiple osteochondromas is inherited as an autosomal dominant genetic condition and is associated with abnormalities (mutations) in the EXT1or EXT2 gene.Hereditary multiple osteochondromas was formerly called hereditary multiple exostoses. SYMPTOMS Hereditary multiple osteochondromas is a rare disorder that affects bone growth. Bony tumors (exostoses or osteochondromas), covered with cartilage, typically appear in the growth zones (metaphyses) of the long bones adjacent to...