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Medical ConditionsThis page is designed to give basic information and links to further information relating to specific diseases. Whilst every effort has been made to ensure the information set out below is correct, I cannot take responsibility for any incorrect or false information, either here or the links to other sites. I have no medical training and this information is to be used only as a guide to further medical investigations if required.
Acrocephalosyndactyly This disorder is inherited and characterised by abnormalities of the skull, face, hands, and feet. Fingers and toes are fused together, and the thumbs and big toes have broad ends. Surgery is used to correct the abnormalities of the skull, face, hands, and feet.
Aicardi's sydrome A rare female genetic disorder. Symptoms include epilepsy, vision problems, developmental delay, and deformities of the spine, face, and/or heart. Epilepsy may be medicated and surgery may correct some physical problems.
AIDS Acquired Immunodeficiency Syndrome, caused by an infection with the human immunodeficiency virus (HIV), which breaks down the body's immune system. Symptoms may include infections such as tuberculosis, bacterial pneumonia, human herpes virus, or toxoplasmosis, cancer, loss of body weight, and in advanced cases, AIDS dementia complex.
Alport SyndromeA condition which is inherited and may have features which include kidney disease, deafness, and sometimes eye defects. Symptoms include inflammation of the kidney, often leading to kidney failure, and hearing loss.
Alzheimer's disease A degenerative disease of the brain that progressively leads to dementia. Currently, there is no cure for Alzheimer's disease, but new medications appear to slow its progress.
Angiosarcoma Cancerous tumors that forms in the lining of blood vessels in the skin, breast, liver, spleen, bone, lung, or heart. Angiosarcomas may be a very aggressive form of cancer.
Ankylosing spondylitis Chronic inflammation of the spine and the sacroiliac joints. Symptoms include pain and stiffness in and around the spine. Over time, chronic spinal inflammation (spondylitis) may lead to a complete fusion of the vertebrae, this is called ankylosis.
Anorexia nervosa An eating disorder whereby the patient attempts to limit their intake of food. If the patient successfully reduces their food intake for an extended period the patient may experience extreme weight loss, weakness, and dulling of the hair and skin. Anorexia nervosa may be a form of obsessive-compulsive disorder. Left untreated anorexia may lead to organ failure and death.
Anxiety Disorder A chronic condition whereby the patient has an excessive and persistent sense of apprehension, physical symptoms may include sweating, palpitations, and feelings of stress. Understanding the condition gives the patient great comfort. Sometimes the patient can be desensitised to the situations which cause the anxiety or they may be medicated.
Arthritis Arthritis is the inflammation of joint or joints. This inflammation can lead to stiffness, warmth, swelling, redness, and constant pain. There are over 100 types of arthritis.
Asperger's syndrome Asperger syndrome is related to autism and is characterised by obsessive interests and behavior, however there is no speech delay or mental retardation. Other aspects of Asperger syndrome may include physical clumsiness, and/or moderate to severe social deficits. Asperger sufferers are the highest functioning members of the autism spectrum. The cause of Asperger syndrome is unknown.
Ataxia-telangiectasia A progressive neurodegenerative disease, symptoms include poor coordination and lack of balance, red eyes, and recurring sinus and pulmonary infections. Patients often develop leukemia and lymphoma, and are extremely sensitive to radiation.
Attention deficit hyperactivity disorderA condition where the patient is unable to control their behavior, combined with an extremely high level of motor activity. Symptoms may include, inability to remain still, very talkative and easily distractible. www.nimh.nih.gov/health/publications/adhd/complete-publication.shtml
AutismA large range of neuropsychiatric disorders. Symptoms may include deficits in social interaction and communication and unusual and repetitive behavior. Some sufferers may be nonverbal. www.ninds.nih.gov/disorders/autism/detail_autism.htm
Bell's palsy The nerve that supplies the facial muscles on one side of the face is paralysed. It often has a sudden onset. A viral infection may be the cause. Pain may often be reduced by massage. Generally 80% of patients often recover within the first few months.
Bernard-Soulier syndrome A disorder which inhibits the formation of blood clots and abnormal bleeding occurs. This syndrome is usually diagnosed in early childhood due unusual bruises, nosebleeds, and gum bleeding. Anything that induces bleeding can cause problems, menstruation, trauma, surgery, or stomach ulcers. www.medicinenet.com/bernard-soulier_disease/article.htm www.bernardsoulier.org
Bipolar disorder A disorder characterised whereby the patient goes through uncontrollable mood swings of depression, hypomania , mania, and psychosis in some cases. These mood swings affect thinking, judgment, and social behavior and may cause serious problems for the patient. Bipolar disorder is also known as manic-depressive disease and manic depression.
Body dysmorphic disorder A psychiatric disorder where the patient is excessively preoccupied with imaginary defects in their physical appearance. Classed as an anxiety disorder, it is said to be a variant of obsessive-compulsive disorder. Also known as somatoform disorder and dysmorphophobia.
Brain tumors A growth in the brain, either benign or malignant. Brain tumors that form in the brain are primary brain tumors. Cancers that have spread to the brain are secondary brain tumors. People of any age can suffer from brain tumors.
Breast Cancer Cancer that begins in the breast, this is a common form of cancer. Men can develop breast cancer, however it is more common for women to suffer from the disease. There are many forms of breast cancer and the treatment will depend on the type of cancer and where it is situated.
Bulimia nervosa An eating disorder whereby the patient has periods of extreme overeating often followed by periods of anorexia. Usually the patient will induce vomiting and/or take laxatives and become obsessive with exercise. Dehydration can become life threatening and the bowel, liver, kidney, teeth, and heart may all suffer permanent damage. Cancer Cancer is an abnormal growth of cells that manifest and grow in an uncontrolled way and, sometimes spread to other parts of the body. The most common form of cancer in both men and women is skin cancer.
Cerebral palsy A condition where the ability to control movements is abnormal due to a non progressive brain lesion which is usually acquired before the age of 1 year old.
Ceruloplasmin deficiency Ceruloplasim is a protein that helps transport iron. Ceruloplasmin deficiency is a genetic disorder which can lead to diabetes, cirrhosis, vision problems, dementia and Parkinson's disease. Deferoxamine may halt the progression of these complications. Also known as aceruloplasminemia.
Charcot-Marie-Tooth disease One of the most common genetic diseases which affect the nerves and muscles, although there are reported cases with no previous family history of the disease. Symptoms of Charcot-Marie-Tooth disease are progressively debilitating weakness, particularly in the limbs, muscle wasting and deformity of the foot, which is often the first sign of the illness. Also known as peroneal muscular atrophy and hereditary motor and sensory neuropathy.
Childhood disintegrative disorder This disorder is characterised by the dramatic loss of previously learnt skills such as language, social skills, bowel and bladder control and motor skills.
Cogan syndrome Symptoms include hearing problems, balance issues and inflammation of the cornea. Often fever, fatigue, weight loss, joint and muscle pains are associated with Cogan syndrome. Sometimes, the skin, kidneys, nerves, and other tissues and organs may be affected. In some cases deafness or blindness may occur. The cause of Cogan syndrome is unknown and is extremely rare.
Creutzfeldt-Jakob disease Is a degenerative disease of the brain which leads to dementia and, eventually, death. It is abbreviated to CJD. Forgetfulness, nervousness, trembling hand movements, unsteady gait, muscle spasms, chronic dementia, balance disorder, and loss of facial expression are some of the symptoms. There is no treatment or a cure for CJD. Also known as Creutzfeldt-Jakob syndrome, Jakob-Creutzfeldt disease, and spastic pseuodoparalysis.
Crohn's disease A chronic inflammatory that affects the digestive system, primarily the small and/or large intestine. It may be a chronic, recurrent condition, or there can be minimal affects. Symptoms can include abdominal pain, diarrhea, vomiting, fever, and weight loss, as well as inflammation of the joints, spine, eyes, and liver. Also known as regional enteritis.
Cystic fibrosis A common genetic disease which leads to mucus build up that affects the pancreas and the intestine. Respiration can be impaired due to mucus buildup in lungs.
Dementia The impairment or loss of intellectual abilities, such as memory, attention, orientation, judgment, language, motor and spatial skills. This interferes with social or occupational functioning. The most common cause of dementia is Alzheimer's disease.
Down Syndrome A common birth defect that causes mental retardation, multiple malformations and a characteristic facial appearance. Early intervention may help to improve mental and physical abilities.
Dystonia Extended muscle contractions and involuntary movements that cause twisting body motions, tremors, and abnormal posture. The entire body maybe involved in these movements or just an isolated area. Sometime sedative medications or surgery can be used to control Dystonia.
Fibromyalgia Syndrome Severe pain in muscles and surrounding areas without any signs of tissue damage. Often worse in the morning or evening. Can be extremely debilitating and lead to other medical conditions which are associated with living with long term pain. www.http://www.betterhealth.vic.gov.au http://en.wikipedia.org/wiki/Fibromyalgia Fragile X syndrome The most common inherited form of mental retardation. Characteristic long ears, a long face, delayed speech, large testes (in boys), hyperactivity, tactile defensiveness, gross motor delays, and autistic-like behaviors. Also known as FRAXA and Martin-Bell syndrome.
Hunter's syndrome A genetic disorder with characteristic features including dwarfism, bone deformities, a thickened, coarse face, hepatosplenomegaly, cardiovascular disorders and deafness. The more severe form of Hunter's syndrome causes progressive mental retardation, physical disability, and death before age 15 in most cases. Also known as mucopolysaccharidosis II.
Huntington's disease A genetic disorder which is characterised by progressive mental and physical deterioration which leads to death. Usually it is an adult-onset disorder, but it can also affect children as well. 15 to 18 years is the average survival period after the onset of symptoms. The first symptom is usually mood disturbance with dramatic mood swings that may include mania, depression, extreme irritability or angry outbursts, and psychosis. Further symptoms may include restless, wiggling, turning movements, muscle stiffness and slowness of movement, difficulties with memory and other cognitive processes.
Hurler syndrome An inherited disorder with progressive mental degeneration, gross facial features, enlarged and deformed skull, small stature, corneal opacities, enlargement of the liver and spleen, valvular heart defects, thick skin, joint contractures, and hernias. Also known as mucopolysaccharidosis I.
I-cell disease A severe genetic disorder which affects the kidneys, heart, and nervous system. Mortality in children with I-cell disease usually occurs due to heart failure or pneumonia before puberty. There is no known treatment for I-cell disease. Also know as mucolipidosis II.
Keratitis-ichthyosis-deafness syndrome An inherited disorder which is characterised by gradual destruction of the cornea, where blindness may occur, itchthyosis, and deafness from birth. Sometimes cancer of the tongue may develop, thin or no scalp hair and there may also be abnormalities of the nervous system.
Korsakoffs disease A form of dementia, where sections of the brain are irreparably damaged due to a lack of thiamine (Vitamin B). Usually the patient will have little to no short term memory, although long term memories still exist. Another symptom is confabulation whereby the patient has gaps in the memory and subconciously makes memories to fill these holes, often unrealistic and bizarre memories are created and the patient is unable to recognise that their recollection is not plausible. Motivational and planning sections of the brain often do not work and the patient does not seem to make any sense. Once described as being similar to 'a radio station not tuned in properly' with the patient making sense only in waves. Some patients can fully recover if vitamin B is administered quickly. After two years, patients have reached their full recovery potential. This disease is often linked to alcoholism due to a poor diet.
Krabbe disease An inherited disease with progressive degeneration of the nervous system. Symptoms include weakness, loss of vision and intellectual capacities.
Landau-Kleffner syndrome A seizure disorder which begins in childhood. The patient develops characteristics similar to autism with loss of abilities, such as speech.
Lennox-Gastaut syndrome A severe form of epilepsy with onset usually in early childhood. Symptoms include frequent seizures of many types, mental impairment, and abnormal EEG readings.
Leukemia A cancer affecting the blood cells. Chemotherapy, radiation therapy, biological therapy, and/or bone marrow transplantation are treatments for leukemia. Also spelled leucemia.
Lupus A chronic inflammatory disease that is more common in women than men. It is caused by an autoimmune condition where unusual antibodies in the blood target their own body tissues. Disease of the skin, heart, lungs, kidneys, joints, and nervous system may occur.
MASA syndrome Is named for the symptoms of the condition which are: mental retardation, aphasia, shuffling gait, and adducted thumbs. Other features may include leg spasticity; small body size and a swayed back. MASA is inherited and affects boys mainly. Also known as clasped thumbs and mental retardation, congenital clasped thumbs with mental retardation, adducted thumbs with mental retardation, and Gareis-Mason syndrome.
MELAS syndrome Stands for Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome. People with MELAS syndrome develop brain dysfunction, with seizures and headaches, muscle disease, with a buildup of lactic acid in the blood, temporary local paralysis, and dementia. MELAS is progressive and fatal with no known cure.
Mental illness Any disease that causes disturbances of thought or behavior. There are many causes of mental illness such as genetic, metabolic, structural, viral, bacterial, or environmental causes.
Mental retardation Where a person has an IQ measuring below 75 and also shows significant delays in at least two areas of adaptive skills. Present from childhood, with approximately 2 - 3% of the population meeting this criteria.
Mitochondrial myopathy A type of muscle disease that leads to progressive muscle weakness.
Morquio syndrome Whereby the patient has the inability to break down keratin sulfate, which accumulates abnormally in muscle and skeletal tissues which leads to abnormalities of the skeleton, muscles, skin, teeth, and muscular organs. Whilst there is currently no treatment, physical therapy, medication, and sometimes surgery can help enhance the patient's daily life.
Motor neuron disease The term motor neuron disease relates to a group of diseases of the nervous system. The affects of which are characterised by progressive deterioration of the motor neurons in the brain, brainstem, and spinal cord. This degeneration leads to weakness and wasting of muscles. In most cases, the intellect remains the same.
Multiple myeloma Cancer of the bone marrow, which leads to damaged and weakened bones, resulting in pain and often fractures. Damaged bones can lead to excessive calcium being released into the blood, resulting in loss of appetite, nausea, thirst, fatigue, muscle weakness, restlessness, and confusion. Also known as plasma cell myeloma and myeloma.
Muscular dystrophy A genetic disease which leads to progressive weakness and degeneration of the skeletal or voluntary muscles that control movement. Muscular dystrophy has no specific treatment.
Myasthenia gravis An autoimmune neuromuscular disorder, symptoms are fatigue and exhaustion of muscles. There is no cure for Myasthenia gravis, but it is only fatal in about 10% of cases today.
Myelodysplastic syndrome A disorder which affects the bone marrow. Symptoms may include anemia, low or high white blood cell count, infections, bleeding problems and may lead to leukemia. Also known as preleukemia or smoldering leukemia.
Neurofibromatosis type 2 A genetic disorder with benign tumors associated with the nerves to both ears. These tumors can cause tinnitus, hearing loss, and problems with balance. Also known as bilateral acoustic neurofibromatosis and central neurofibromatosis.
Niemann-Pick disease An inherited disorder which is characterised by progressive enlargement of the liver and spleen, enlarged lymph nodes, anemia, and mental and physical deterioration. Usually the onset occurs in early infancy and may lead to death before the age of 3. Symptoms include mental retardation, spasticity, seizures, jerks, eye paralysis, and ataxia.
Noonan syndrome An inherited condition. Symptoms may include mildly short stature, congenital heart defect, a broad or webbed neck; an unusual chest shape, low-set nipples; and characteristic facial features. There is also an increased risk of developmental and language delay, learning disabilities, hearing loss, and mild mental retardation.
Oligosaccharidosis An inherited metabolic disorder usually causing a deterioration of the nervous system. There is no treatment available for this condition.
Organic brain syndrome Neurological or psychiatric symptoms that occur from damage or disease in the brain. Organic mental disorder is another name for organic brain syndrome.
Otahara syndrome A seizure disorder which usually occurs within the first few weeks of life. The patient may experience many different types of seizures. Usually development is slowed in Otahara patients and they may become progressively more impaired.
Parkinson's disease A gradually progressive neurological disease with features such as a fixed inexpressive face, tremors, slowing of voluntary movements, gait with short accelerating steps, peculiar posture and muscle weakness. Also known as paralysis agitans and shaking palsy.
Pervasive developmental disorder A group of disorders such as Asperger's syndrome, Rett's syndrome, autism and disintegrative disorder. Multiple basic functions are delayed such as social and communication skills.
Pick disease A form of dementia with features such as slowly progressing deterioration of memory, social skills, intellect, language and changes in their personality. The cause of Pick disease is of unknown and there is no treatment.
Polycystic kidney disease A disorder which is inherited and affects the kidneys, eventually leading to kidney failure.
Prader-Willi syndrome A syndrome with features such as severe floppiness, excessive eating, developmental delay and mild to moderate mental retardation with multiple learning disabilities. There is no treatment for this condition.
Rasmussen syndrome An inflammation of the brain cells in one hemisphere, the cause of which is unknown. Features include seizures that may not be able to be controlled with medication, which may lead to brain shrinkage. The inflammation may cease without intervention, however it leaves behind irreparable damage.
Refsum disease A genetic disorder that progressively leads to inflammation of some nerves, vision impairment, and ataxia. Also known as phytanic acid storage disease.
Reiter syndrome Chronic arthritis combined with inflammation of the eyes, genital, urinary, or gastrointestinal systems. Reiter syndrome can sometimes affect organs also.
Rett syndrome A neurological disease, which is a common cause of mental retardation, mainly affecting females. Symptoms include normal development for the first 6 to 18 months of life, a period of non progression, followed by rapid regression of motor and language skills. Other features include loss of speech, autistic behaviour, grinding of teeth and tremors. Seizures may occur in about 50% of patients.
Reye's syndrome A sudden disease of the brain, along with degeneration of the liver. Reye's syndrome usually occurs after an infection such as chickenpox or an influenza-type illness. Symptoms may include lethargy, vomiting, confusion, and delirium.
Rubella syndrome A group of abnormalities caused by the fetus being exposed to the Rubella virus, or German measles. Symptoms may include mental retardation, deafness, cataracts, glaucoma, diabetes, and cardiovascular malformations.
Sanfilippo syndrome An inherited disorder with the onset of clinical abnormalities occurring between ages 2 and 6, symptoms may include mild stiffening of the joints, slow growth, and intellectual deterioration progressing to severe mental retardation. Also known as mucopolysaccharidosis type III (MPS III).
Sapho syndrome Saphro syndrome stands for Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome. Symptoms include arthritis, fluid-filled blister-like areas, excessive bone growth, inflammation of the sacroiliac joints and spine.
Schizophrenia A several brain disease with features that may include loss of personality, agitation, catatonia, confusion, psychosis, unusual behavior and social withdrawal. With onset usually in early adulthood, there is no known cause of schizophrenia.
Scleroderma A disease which causes scar tissue to form in the skin and sometimes also in other organs of the body, which may also affect the bowels, and the lungs. There is no known cause of scleroderma.
Sjogren's syndrome An autoimmune disease causing inflammation in the glands and other body tissue. Symptoms may include dry eyes, dry mouth, rheumatoid arthritis, lupus, scleroderma, polymyositis, or another autoimmune condition. Mainly affecting women around middle age or older. Also known as keratoconjunctivitis sicca and sicca syndrome.
Spina bifida A major birth defect relating to the spine. Patients may experience neurological problems, bladder and bowel incontinence, limited mobility and learning problems.
Sturge-Weber syndrome A disorder which may affect the skin, the neurological system, the eyes and internal organs. The patient may experience seizures and be delayed developmental.
Tassinari syndrome A type of epilepsy combined with language difficulties. With onset at around 4 years of age, the cause is unknown. The patient may experience receptive or expressive dysphasia, slowed learning and seizures. Also called continuous spike waves of slow sleep (CSWS).
Tay-Sachs disease A genetic metabolic disorder. Symptoms include convulsions, excessive drooling, blindness and progressive deterioration of the central nervous system.
Tourette's syndrome A genetic disorder that features chronic vocal and motor tics. Usual onset is between 6 and 18 years of age.
Tuberous sclerosis A genetic disorder with abnormalities of the skin, brain, kidney, and heart. Symptoms may include seizures, developmental delay, and mental retardation.
Usher syndrome An inherited disease that affects both vision and hearing (in both ears). The patient may experience balance problems. |
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