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Other
Crohn's Disease and Ulcerative Colitis:
CD is an inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from anus to mouth, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea (which may be bloody), vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis and inflammation of the eye.
CD is an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation; it is classified as a type of inflammatory bowel disease. There is no known pharmaceutical or surgical cure for CD. Treatment options are restricted to controlling symptoms, maintaining remission and preventing relapse. The exact cause of CD is still unknown, although the interplay of environmental factors in a genetically predisposed host is thought to initiate disease. CD tends to affect people in their teens and 20s, and people in their 50s through to their 70s, and ages in between due to not being diagnosed with CD and being diagnosed instead with irritable bowel syndrome (IBS). It is rarely diagnosed in early childhood. Parents, siblings or children of people with CD are 3 to 20 times more likely to develop the disease. Click here to read more Alpha-1 Antitrypsin Deficiency (glycoprotein deficiency affecting lungs and
liver):
It is an inherited disorder that may cause lung disease and liver disease. People with Alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20 and 50. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other signs and symptoms can include unintentional weight loss, recurring respiratory infections, fatigue, and rapid heartbeat upon standing.
Affected individuals often develop emphysema, which is a lung disease caused by damage to the small air sacs in the lungs (alveoli). Smoking or exposure to tobacco smoke accelerates the appearance of emphysema symptoms and damage to the lungs. About 10 percent of infants with alpha-1 antitrypsin deficiency develop liver disease, which often causes yellowing of the skin and whites of the eyes (jaundice). Approximately 15 percent of affected adults develop liver damage (cirrhosis) due to the formation of scar tissue in the liver. Individuals with alpha-1 antitrypsin deficiency are also at risk for developing a type of liver cancer called hepatocellular carcinoma. In rare cases, people with alpha-1 antitrypsin deficiency develop a skin condition called panniculitis, which is characterized by hardened skin with painful lumps or patches. Click here to read more Hirschsprung's Disease (congenital aganglionic megacolon):
It involves an enlargement of the colon, caused by bowel obstruction resulting from a section of bowel where the normal enteric nerves are absent. The length of bowel that is affected varies but seldom stretches for more than about 30 cm. Hirschsprung’s has an incidence of 1/5000 births. Treatment of Hirschsprung's disease consists of surgical removal (resection) of the abnormal section of the colon.
Click here to read more Becker/Duchenne Muscular Dystrophy (progressive paralysis of proximal
muscles):
Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy primarily affect the skeletal muscles, which are used for movement, and the muscles of the heart. These conditions occur much more frequently in males than in females.
Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene (DMD). The two conditions differ in their severity, age of onset, and rate of progression. In people with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and progress rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking. They are usually wheelchair-dependent by adolescence. The signs and symptoms of Becker muscular dystrophy are usually milder and exhibit a large range of variation. In most cases, muscle weakness becomes apparent later in childhood or adolescence and progresses at a much slower rate. Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called dilated cardiomyopathy. This form of heart disease enlarges and weakens the heart (cardiac) muscle, preventing it from pumping blood efficiently. Duchenne and Becker muscular dystrophies together affect 1 in 3500 to 5000 newborn males. Females are rarely affected by these forms of muscular dystrophy Click here to read more Beta Thalassemia (genetic anemia):
It is a blood disorder that reduces the production of haemoglobin. Haemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of haemoglobin lead to a lack of oxygen in many parts of the body. Affected individuals also have a shortage of red blood cells (anaemia), which can cause pale skin, weakness, fatigue, and more serious complications.
People with beta thalassemia are at an increased risk of developing abnormal blood clots. The signs and symptoms of beta thalassemia appear within the first 2 years of life. Children develop life-threatening anaemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. Some adolescents with thalassemia major experience delayed puberty. Many people with thalassemia have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing haemoglobin from chronic blood transfusions can lead to a build up of iron in the body, resulting in liver, heart, and hormone problems. Beta thalassemia is a fairly common blood disorder worldwide. This condition occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia at a frequency of about 1 in 3600. Click here to read more Cystic Fibrosis (Sodium channel pathology leading to build-up of mucus):
Cystic Fibrosis is an inherited disease of the mucus glands that affects many body systems. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. Mucus is a substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues.
In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can obstruct the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus build up and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Most people with cystic fibrosis also have digestive problems because thick, sticky mucus interferes with the function of the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, preventing these enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Cystic fibrosis is a common genetic disease within the Caucasian (white) population. The disease occurs in 1 in 2500 to 3500 Caucasian newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17000 African Americans and 1 in 31000 Asian Americans. Click here to read more Nonsyndromic Deafness:
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear.
The inner ear consists of three parts: a snail-shaped structure called the cochlea that helps process sound, nerves that send information from the cochlea to the brain, and structures involved with balance. The severity of hearing loss varies and can change over time. It can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The loss may be stable, or it may progress as a person gets older. Particular types of nonsyndromic deafness often show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones. Nonsyndromic deafness can occur at any age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual. Usually, each parent of an individual with autosomal recessive deafness is a carrier of one copy of the mutated gene, but is not affected by this form of hearing loss. About 1 in 1000 children is born with profound deafness, and another 2 to 3 per 1000 children are born with partial hearing loss. More than half of these cases are caused by genetic factors. Most cases of genetic deafness (70 percent to 80 percent) are nonsyndromic; the remaining cases are caused by specific genetic syndromes. In adults, the chance of developing hearing loss increases with age; hearing loss occurs in half of all people older than 80 years. Overall, 1 in 10 people are currently affected by hearing loss, and this number continues to increase as the population ages. Click here to read more Myotonic Dystrophy (wasting of the muscles):
It is an inherited disorder of the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood. This disorder is characterized by progressive muscle wasting and weakness, particularly in the lower legs, hands, neck, and face.
People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). In affected men, hormonal changes may lead to balding and an inability to father a child (infertility). The features of this disorder usually develop during a person's twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family. Myotonic dystrophy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. As myotonic dystrophy is passed from one generation to the next, the disorder generally begins earlier in life and signs and symptoms become more severe. This phenomenon is called anticipation. Myotonic dystrophy affects about 1 in 8000 people worldwide. Click here to read more Sickle Cell Anaemia (red blood cell disorder):
It is a group of disorders that affects haemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anaemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person.
Some people have mild symptoms, while others are frequently hospitalized for more serious complications. The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anaemia. Anaemia can cause shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygenrich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sickle cell disease affects millions of people worldwide. It is most common among people whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and Spanish-speaking regions in South America, Central America, and parts of the Caribbean. The disease is estimated to occur in 1 in 10 people of African descent. Click here to read more Tay-Sachs Disease (mental and physical deterioration):
It is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling.
They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are very rare. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana. Click here to read more Variegate Porphyria (Photosensitivity and neurovisceral symptoms):
It is an autosomal dominant porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. Many people with this disorder never experience symptoms. When symptoms occur, they can include acute attacks (similar to acute intermittent porphyria), skin damage, or both.
Acute attacks usually begin in adulthood and cause abdominal pain, vomiting, diarrhea and constipation. During an attack, a person may also experience muscle weakness, seizures, and mental changes such as anxiety and hallucinations. These signs and symptoms are triggered by nongenetic factors such as certain drugs, dieting or fasting, certain hormones and stress. Some people with variegate porphyria have skin that is overly sensitive to sunlight. Areas of skin exposed to the sun develop severe blistering, scarring, changes in pigmentation, and increased hair growth. Exposed skin becomes fragile and is easily damaged. Rarely, the signs and symptoms of variegate porphyria can begin in infancy or early childhood. In such cases, the signs and symptoms are usually more severe than those starting later in life. In addition to the health problems described above, children with this disorder may have mental retardation and grow more slowly than other children. Variegate porphyria is inherited in an autosomal dominant pattern, which means the defective gene is located on an autosome, and inheriting one copy of the defective gene from an affected parent is sufficient to cause the disorder. More severe cases result from inheriting two copies of the defective gene. Variegate porphyria is most common in the Afrikaner population of South Africa; about 3 in 1000 people in this population have the genetic change that causes this form of the disorder. Click here to read more Fanconi Anaemia (FA):
It is a genetic disease that affects children and adults from all ethnic backgrounds. Many patients eventually develop acute myelogenous leukemia (AML). Older patients are extremely likely to develop head and neck, esophageal, gastrointestinal, vulvar and anal cancers. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer.
Many patients do not reach adulthood. The bone marrow of FA patients fails to produce blood cells. In addition, FA patients normally are born with a variety of birth defects. For instance, 90% of the Jewish children born with FA have no thumbs. A number of FA patients have kidney problems, trouble with their eyes, developmental retardation and other serious defects, such as microcephaly (small head). Clinically, haematological abnormalities are the most serious symptoms in FA. By the age of 40, 98% of FA will have developed some type of hematological abnormality. Because of the failure of haemotologic components to develop - leukocytes, red blood cells and platelets - the body's capabilities to fight infection, deliver oxygen, and form clots are all diminished. Symptoms appear progressively and often lead to complete bone marrow failure. For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. Approximately 1000 persons worldwide currently suffer from the disease. The carrier frequency in the Ashkenazi Jewish population is about 1 in 90. Click here to read more Lactose Intolerance:
It is the inability to metabolize lactose, a sugar found in milk and other dairy products, because the required enzyme lactase is absent in the intestinal system or its availability is lowered. Disaccharides, such as lactose, must be broken down by lactase before they can be absorbed through the wall of the small intestine into the bloodstream. In the absence of lactase, lactose present in ingested dairy products remains intact and passes into the colon.
Bacteria in the gut utilise the undigested lactose for their metabolism and produce large amounts of gas (a mixture of hydrogen, carbon dioxide, and methane) as a by product of fermentation. This, in turn, may cause a range of abdominal symptoms, including stomach cramps, bloating, and flatulence. In addition, as with other unabsorbed sugars (such as sorbitol, mannitol, and xylitol), the presence of lactose and its fermentation products raises the osmotic pressure of the colon contents. The normal mammalian condition is for the young of a species to experience reduced lactase production at the end of the weaning period (a species-specific length of time). In humans, in non-dairy consuming societies, lactase production usually drops about 90% during the first four years of life, although the exact drop over time varies widely. However, certain human populations have a mutation on chromosome 2 which eliminates the shutdown in lactase production, making it possible for members of these populations to continue consumption of fresh milk and other dairy products throughout their lives without difficulty. This appears to be an evolutionarily recent adaptation to dairy consumption, and has occurred independently in both northern Europe and east Africa in populations. It is estimated that 75% of adults worldwide show some decrease in lactase activity during adulthood. The frequency of decreased lactase activity ranges from as little as 5% in northern Europe, up to 71% for Sicily, to more than 90% in some African and Asian countries. Click here to read more Fragile X syndrome:
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Males and females with fragile X syndrome may have anxiety and hyperactive behaviour such as fidgeting, excessive physical movements, or impulsive actions. They may also have attention deficit disorder, which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of males with fragile X syndrome also have autism or autistic-like behaviour that affects communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Many males with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, and enlarged testicles (macroorchidism) after puberty.
Fragile X syndrome occurs in approximately 1 in 4000 males and 1 in 8000 females in the general population Click here to read more Friedreich's Ataxia:
Friedreich's Ataxia is a genetic condition that damages nerve tissue, causing a loss of muscle coordination (ataxia) that worsens over time. Other characteristics of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity) in the limbs, and impaired speech. Friedreich ataxia may also affect heart function. Typically, signs and symptoms of Friedreich ataxia first appear in childhood or the early teens. Poor balance when walking and slurred speech are often the initial symptoms. About 25 percent of cases, however, occur after age 25. These cases are classified as late-onset Friedreich ataxia (LOFA), with onset between 26 and 39 years, or very late-onset Friedreich ataxia (VLOFA), which begins at age 40 or older.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Friedreich ataxia is estimated to affect 1 in 40000 people in the general population. Click here to read more Huntington Disease:
Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.
Huntington disease affects an estimated 3 to 7 per 100 000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent. Click here to read more  To read .pdf files, you need Acrobat Reader. To download this, click here.
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