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Little is publicly known about the underlying factors causing the disease. Genetic factors are suspected, but the disease does not appear to be heritable. Also, something in the environment may trigger the disease.
Anti-synthetase syndrome is a autoimmune disease associated with interstitial lung disease, dermatomyositis, and polymyositis.
Degenerative disease is the result of a continuous process based on degenerative cell changes, affecting tissues or organs, which will increasingly deteriorate over time, whether due to normal bodily wear or lifestyle choices such as exercise or eating habits. Degenerative diseases are often contrasted with infectious diseases.
An elevated concentration of autoantibodies that block interferon-gamma was detected in most patients.
As a syndrome, this condition is poorly defined. Diagnostic criteria require one or more antisynthetase antibodies (which target tRNA synthetase enzymes), and one or more of the following three clinical features: interstitial lung disease, inflammatory myopathy, and inflammatory polyarthritis affecting small joints symmetrically. Other supporting features may include fever, Raynaud's phenomenon and "mechanics hands"-thick, cracked skin usually on the palms and radial surfaces of the digits.
The disease, rare as it is, is more prevalent in women than in men. Early diagnosis is difficult, and milder cases may not be detected. Also, interstitial lung disease may be the only manifestation of the disease. Severe disease may develop over time, with intermittent relapses.
Diet and lifestyle are major factors thought to influence susceptibility to many diseases. Drug abuse, tobacco smoking, and alcohol drinking, as well as a lack of or too much exercise may also increase the risk of developing certain diseases, especially later in life. Between 1995 and 2005 813,000 Australians were hospitalised due to alcohol
In many Western countries, people began to consume more meat, dairy products, vegetable oils, tobacco, sugary foods, Coca-Cola, and alcoholic beverages during the latter half of the 20th century. People also developed sedentary lifestyles and greater rates of obesity. In 2014 11.2 million Australians were overweight or obese Rates of colorectal cancer, breast cancer, prostate cancer, endometrial cancer and lung cancer started increasing after this dietary change. People in developing countries, whose diets still depend largely on low-sugar starchy foods with little meat or fat have lower rates of these cancers. Causes are not just from smoking and alcohol abuse. Adults can develop lifestyle diseases through behavioural factors that impact on them. These can be unemployment, unsafe life, poor social environment, working conditions, stress and home life can change a person’s lifestyle to increase their risk of developing one of these diseases.
Riedel's thyroiditis is classified as rare. Most patients remain euthyroid, but approximately 30% of patients become hypothyroid and very few patients are hyperthyroid. It is most seen in women.
Riedel's thyroiditis, also called Riedel's struma is a chronic form of thyroiditis.
It is now believed that Riedel's thyroiditis is one manifestation of a systemic disease that can affect many organ systems called IgG4-related disease. It is often a multi-organ disease affecting pancreas, liver, kidney, salivary and orbital tissues and retroperitoneum. The hallmarks of the disease are fibrosis and infiltration by IgG4 secreting plasma cells.
Diffuse myelinoclastic sclerosis, sometimes referred to as Schilder's disease, is a very infrequent neurodegenerative disease that presents clinically as pseudotumoural demyelinating lesions, that make its diagnosis difficult. It usually begins in childhood, affecting children between 5 and 14 years old, but cases in adults are possible.
This disease is considered one of the borderline forms of multiple sclerosis because some authors consider them different diseases and others MS variants. Other diseases in this group are neuromyelitis optica (NMO), Balo concentric sclerosis and Marburg multiple sclerosis.
Fucosidosis is an extremely rare disorder first described in 1962 in two Italian siblings who showed progressive intellectual disability and neurological deterioration. The disease itself is extremely rare (less than 100 documented cases) only affecting 1:2,000,000, with most cases being occurring in Italy, Cuba, and the southwest U.S. The disease has three different types. Type 1 and 2 are considered severe, and Type 3 being a mild disease. Symptoms are highly variable with mild cases being able to live to within the third or fourth decade. Type 1 and 2 are both linked with mental retardation. Severe cases can develop life-threatening complications early in childhood.
Because the major accumulating glycoconjugate in fucosidosis patients is the blood group H-antigen, it is intriguing to speculate, but the evidence is not clear at this time, that blood type may affect the course of the disease.
Scleromyositis or the PM/Scl overlap syndrome is a complex autoimmune disease (a disease in which the immune system attacks the body). Patients with scleromyositis have symptoms of both systemic scleroderma and either polymyositis or dermatomyositis, and is therefore considered an overlap syndrome. Although it is a rare disease, it is one of the more common overlap syndromes seen in scleroderma patients, together with MCTD and Antisynthetase syndrome. Autoantibodies often found in these patients are the anti-PM/Scl (anti-exosome) antibodies.
The symptoms that are seen most often are typical symptoms of the individual autoimmune diseases and include Raynaud's phenomenon, arthritis, myositis and scleroderma. Treatment of these patients is therefore strongly dependent on the exact symptoms with which a patient reports to a physician and is similar to treatment for the individual autoimmune disease, often involving either immunosuppressive or immunomodulating drugs.
- Clinical characteristics:
- Overlap Syndrome: scleroderma overlap syndrome
- Autoimmune disease
- Scleroderma myositis overlap syndrome
In 2013 there were 147,678 deaths within Australia mostly from lifestyle diseases including smoking of tobacco, alcohol use and other drugs, violence and unhealthy weight have impacted on Australians' death rate. The leading cause of death of Australian males was heart disease with 11,016 deaths, followed by lung cancer with 4,995 deaths, and chronic pulmonary disease killing 3,572. All these conditions were mainly attributed to smoking, alcohol abuse or unhealthy lifestyle. In 2013 coronary heart disease was the leading cause of death in 8,750 women, mainly as a result of their lifestyle. Dementia and Alzheimer disease came second, affecting 7,277 females and thirdly, cerebrovascular disease, killing 6,368. These top three causes of deaths could be minimized through lifestyle changes within the Australian population.
Table Shows that ages of people dying and the top five diseases of which they are dying.
An estimated 20 per million live births are diagnosed with EB, and 9 per million people in the general population have the condition. Of these cases, approximately 92% are epidermolysis bullosa simplex (EBS), 5% are dystrophic epidermolysis bullosa (DEB), 1% are junctional epidermolysis bullosa (JEB), and 2% are unclassified. Carrier frequency ranges from 1 in 333 for JEB, to 1 in 450 for DEB; the carrier frequency for EBS is presumed to be much higher than JEB or DEB.
The disorder occurs in every racial and ethnic group and affects both sexes.
Types include:
- Acrodermatitis enteropathica
- Acropustulosis
- Acrodermatitis chronica atrophicans
- Papular acrodermatitis of childhood
- Dermatitis repens
Chalicosis (Greek, χάλιξ, gravel), sometimes called flint disease, is a form of pneumoconiosis affecting the lungs or bronchioles, found chiefly among stonecutters.
The disease is caused by the inhalation of fine particles of stone.
Scleroderma overlap syndrome: Scleroderma is a connective tissue disease that causes fibrosis and vascular abnormalities, but that also has an autoimmune component.
It is described by connective tissues complications. Blood testing includes screening for the positive antinuclear antibody.
Patients have symptoms of both systemic scleroderma and/or polymyositis and dermatomyositis.
1. Scleroderma: a group of rare diseases that involve the hardening and tightening of the skin and connective tissues
and/or:
Polymyositis: a rare inflammatory disease that causes muscle weakness affecting both sides of your body
Dermatomyositis: an inflammatory disease of skin and muscle marked especially by muscular weakness and skin rash.
The prognosis of this disease is very variable and can take three different courses: a monophasic, not remitting;
remitting;
and finally, progressive, with increase in deficits.
Acrodermatitis /ac·ro·der·ma·ti·tis/ is a childhood form of dermatitis selectively affecting the hands and feet and may be accompanied by mild symptoms of fever and malaise. It may also be associated with hepatitis B and other viral infections.
The lesions appear as small coppery-red, flat-topped firm papules that appear in crops and sometimes in long linear strings, often symmetric.
It is a diffuse chronic skin disease usually confined to the limbs, seen mainly in women in Northern, Central, and Eastern Europe, and characterized initially by an erythematous, oedematous, pruritic phase followed by sclerosis and atrophy. It is caused by infection with "Borrelia burgdorferi".
There are examples of slowly and rapidly progressive diseases affecting all organ systems and parts of the body. The following are some examples of rapidly and slowly progressive diseases affecting various organ systems:
- Brain: Creutzfeldt–Jakob disease progresses rapidly compared to Alzheimer's disease.
- Eyes: Cataracts can be static or slowly progressive. Macular degeneration is slowly progressive, while retinal detachment is rapidly progressive.
- Lungs: Emphysema due to alpha-1 antitrypsin deficiency is a slowly progressive pulmonary disease.
- Kidneys: Goodpasture's syndrome is a rapidly progressive glomerulonephritis, while diabetic glomerulosclerosis is slowly progressive.
- Pancreas: Type 1 diabetes mellitus involves rapidly progressive loss of insulin secretory capacity compared to type 2 diabetes mellitus, in which the loss of insulin secretion is slowly progressive over many years. MODY 2, due to "GCK" mutation, is a relatively static form of reduced insulin secretion.
- Joints: Both osteoarthritis and rheumatoid arthritis are slowly progressive forms of arthritis.
- Nerves: Essential tremor is a slowly progressive neurological disorder which is usually genetically passed down.
Progressive disease or progressive illness is a disease or physical ailment whose course in most cases is the worsening, growth, or spread of the disease. This may happen until death, serious debility, or organ failure occurs. Some progressive diseases can be halted and reversed by treatment. Many can be slowed by medical therapy. Some cannot be altered by current treatments.
Though the time distinctions are imprecise, diseases can be "rapidly progressive" (typically days to weeks) or "slowly progressive" (months to years). Virtually all slowly progressive diseases are also chronic diseases in terms of time course; many of these are also referred to as degenerative diseases. Not all chronic diseases are progressive: a chronic, non-progressive disease may be referred to as a "static" condition.
"Progressive disease" can also be a clinical endpoint i.e. an endpoint in a clinical trial.
Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome) is a very rare disease affecting approximately 75 people worldwide. Patients with ROHHAD, as well as patients with congenital central hypoventilation syndrome (CCHS) have damage to the mechanism governing proper breathing. ROHHAD syndrome is a disease that is potentially lethal and incurable. Fifteen patients with ROHHAD were evaluated by Diego Ize-Ludlow et al. work published in 2007.
Central hypoventilation syndrome is a heterogeneous group of seemingly overlapping diseases. Paired-like homeobox 2B (PHOX2B) was confirmed in 2009 as the disease-causing gene in patients with congenital central hypoventilation syndrome (CCHS), a condition present in newborns. This genetic mutation is not present though in those with late-onset central hypoventilation syndrome and hypothalamic dysfunction.
A 2014 study classified cases into three types—epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), and dystrophic epidermolysis bullosa (DEB) -- and reviewed their times of death. The first two types tended to die in infancy and the last in early adulthood.
Zamia staggers is a fatal nervous disease affecting cattle where they browse on the leaves or fruit of cycads—in particular, those of the genus Zamia (thus the name). It is characterised by irreversible paralysis of the hind legs because of the degeneration of the spinal cord. It is caused by the toxins cycasin and macrozamin, β-glycosides (the sugars of which are glucose and primeverose, respectively) of methylazoxymethanol (MAM), and which are found in all cycad genera.
Following ingestion the sugar is removed by bacterial glycosidase in the gut, with the MAM being absorbed. The metabolized toxin produces tumours of the liver, kidney, intestine and brain after a latent period which may be a year or longer. The disease has been known in Australia since the 1860s and was the subject of a Queensland Government investigation during the 1890s.
It can be grouped into NID A and NID B, with the "A" form affecting the sympathetic innervation, and the "B" version affecting the parasympathetic innervation.
In 2002 Martucciello G et al. published the first analysis of associated anomalies in IND population is an important clinical approach to investigate possible pathogenetic correlations. Two recessive syndromes were identified (3 families). The first was characterized by NID B, intestinal malrotation, and congenital short bowel, the second by NID B, short stature, mental retardation, and facial dysmorphism. In this study, gastrointestinal anomalies accounted for 67.4% of all associated disorders. These data suggest a strong correlation between IND and intestinal development.