Health and Fitness

 Cleidocranial Dysplasia DISEASE OVERVIEW Cleidocranial dysplasia is a rare genetic disorder characterized by abnormal bone formation commonly affecting the skull, teeth and long bones. As a result, short stature, distinctive facial features and narrow, sloping shoulders caused by abnormally developed or absent collarbones (clavicles) may be present in affected individuals. Major features may include premature closing of the soft spot on the head (coronal), delayed closure of the space between the bones of the skull (fontanels), narrow and abnormally shaped pelvic and pubic bones and abnormalities in development of the chest (thoracic region). If not diagnosed at birth, clinical presentation of remarkable features may be most notable in early childhood or adolescence. Additionally, a high arched palate, failure of the lower jaw joints to unite, delayed eruption of teeth and fingers that are irregular in length may also be present. Cleidocranial dysplasia is inherited as an autosoma...

 Classic Hereditary Hemochromatosis DISEASE OVERVIEW Hereditary hemochromatosis (HH) is a general term for several rare genetic disorders that are characterized by the accumulation of iron in various organs of the body such as the liver, heart and pancreas. The abnormally stored iron can damage affected organs, potentially causing a variety of different symptoms. The most common form of hemochromatosis is known by several different names including hemochromatosis type I, HFE-related hemochromatosis, hereditary hemochromatosis and classic hereditary hemochromatosis. Iron accumulation in classic hereditary hemochromatosis occurs slowly over many years. Eventually, iron accumulation causes tissue damage and impaired functioning of affected organs. In many affected individuals, symptoms may not become apparent until some point between 40-60 years of age. Onset is usually earlier for men compared to women. Common symptoms include abdominal pain, weakness, lethargy, and unintended weight...

  Citrullinemia Type 1 DISEASE OVERVIEW Citrullinemia type I (CTLN1) is a rare autosomal recessive genetic disorder that includes a neonatal acute (classic) form, a milder late-onset form, a form that begins during or after pregnancy and an asymptomatic form. CTLN1 is caused by deficiency or absence of the enzyme argininosuccinate synthetase (ASS). ASS is one of six enzymes that play a role in the removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia) in the blood and all body fluids. Infants with the classic form may experience vomiting, refusal to eat, progressive lethargy and show signs of increased intracranial pressure. Prompt treatment can prolong survival, but neurologic deficits are usually present. The course of the late-onset form is sometimes milder but episodes of hyperammonemia are similar to the classic form. SIGNS & SYMPTOMS The severity o...

 Berylliosis DISEASE OVERVIEW Berylliosis is a form of metal poisoning caused by inhalation of beryllium dusts, vapors, or its compounds or implantation of the substance in the skin. The toxic effects of beryllium most commonly occur due to occupational exposure. Beryllium is a metallic element used in many industries, including electronics, high-technology ceramics, metals extraction, and dental alloy preparation. There are two forms of beryllium-induced lung disease, acute and chronic. Acute berylliosis has a sudden, rapid onset and is characterized by severe inflammation of the lungs (pneumonitis), coughing, increasing breathlessness (dyspnea), and other associated symptoms and findings. In addition, in some individuals, the skin or the eyes may be affected. The more common, chronic form of the disease develops more slowly and, in some cases, may not become apparent for many years after initial beryllium exposure. Chronic berylliosis is characterized by the abnormal formation of...

 Balantidiasis Overview Myelodysplastic syndromes are a group of disorders caused by blood cells that are poorly formed or don't work properly. Myelodysplastic syndromes result from something amiss in the spongy material inside your bones where blood cells are made (bone marrow). Management of myelodysplastic syndromes is most often intended to slow the disease, ease symptoms and prevent complications. Common measures include blood transfusions and medications to boost blood cell production. In certain situations, a bone marrow transplant, also known as a stem cell transplant, may be recommended to replace your bone marrow with healthy bone marrow from a donor. Symptoms People with myelodysplastic syndromes might not experience signs and symptoms at first. In time, myelodysplastic syndromes might cause: *Fatigue *Shortness of breath *Unusual paleness (pallor), which occurs due to a low red blood cell count (anemia) *Easy or unusual bruising or bleeding, which occurs due to a low bl...

 Andersen-Tawil Syndrome OVERVIEW Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent. SYMPTOMS Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Causes Mutations in the KCNJ2 gene cause about 60 percent of all cases of Andersen-Tawil syndrome. When the disorder is caused by mutations in this gene, it ...

 Argininosuccinic Aciduria Overview Autoimmune pancreatitis (AIP) is a chronic inflammation that is thought to be caused by the body's immune system attacking the pancreas and that responds to steroid therapy. Two subtypes of AIP are now recognized, type 1 and type 2. Type 1 AIP is the pancreatic manifestation of a disease called IgG4-related disease (IgG4-RD). This disease often affects multiple organs including the pancreas, bile ducts in the liver, salivary glands, kidneys and lymph nodes. Type 2 AIP seems to affect only the pancreas, although about one-third of people with type 2 AIP have associated inflammatory bowel disease. Type 1 AIP can be mistakenly diagnosed as pancreatic cancer. The two conditions have overlapping signs and symptoms, but very different treatments, so it is very important to distinguish one from the other. Symptoms Autoimmune pancreatitis (AIP) is difficult to diagnose. Often, it doesn't cause any symptoms. Symptoms and signs of type 1 AIP are simila...

 Arginase-1 Deficiency Summary Arginase-1 deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase in the liver and red blood cells. Arginase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood and arginine (hyperarginemia) in the blood and cerebrospinal fluid. Untreated children may exhibit seizures, progressive spasticity, short stature and intellectual disability. Most affected infants can now be identified at birth through newborn screening. Arginase-1 deficiency is inherited as an autosomal recessive genetic disorder. Introduction The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the u...

  Arachnoid Cysts DISEASE OVERVIEW Arachnoid cysts are fluid-filled sacs that occur on the arachnoid membrane that covers the brain (intracranial) and the spinal cord (spinal). There are three membranes covering these parts of the central nervous system: the dura mater, arachnoid, and pia mater. Arachnoid cysts appear on the arachnoid membrane, and they may also expand into the space between the pia mater and arachnoid membranes (subarachnoid space). The most common locations for intracranial arachnoid cysts are the middle fossa (near the temporal lobe), the suprasellar region (near the third ventricle) and the posterior fossa, which contains the cerebellum, pons, and medulla oblongata. In many cases, arachnoid cysts do not cause symptoms (asymptomatic). In cases in which symptoms occur, headaches, seizures and abnormal accumulation of excessive cerebrospinal fluid in the brain (hydrocephalus) are common. The exact cause of arachnoid cysts is unknown. Arachnoid cysts are classified...