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A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not due to any immediate external injury. Diseases are often known to be medical conditions that are associated with specific symptoms and signs. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergies and autoimmune disorders.
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
Myalgia comes with many diseases. The most common cause of acute myalgia is the overuse of a muscle or group of muscles; another likely cause is viral infection, especially when there has been no trauma. Long-lasting myalgia can be caused by metabolic myopathy, some nutritional deficiencies, and chronic fatigue syndrome.
Severe acute respiratory syndrome (SARS) is a viral respiratory disease of zoonotic origin caused by severe acute respiratory syndrome coronavirus, the first identified strain of the SARS coronavirus species Severe acute respiratory syndrome–related coronavirus (SARSr-CoV). The syndrome caused the 2002–2004 SARS outbreak. In late 2017, Chinese scientists traced the virus through the intermediary of Asian palm civets to cave-dwelling horseshoe bats in Yunnan.
Hemoptysis is the coughing up of blood or blood-stained mucus from the bronchi, larynx, trachea, or lungs. In other words, it is the airway bleeding. This can occur with lung cancer, infections such as tuberculosis, bronchitis, or pneumonia, and certain cardiovascular conditions. Hemoptysis is considered massive at 300 mL. In such cases, there are always severe injuries. The primary danger comes from choking, rather than blood loss.
Microcephaly is a medical condition involving a shorter-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Since brain growth is correlated with head growth, people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism.
Eosinophilic granulomatosis with polyangiitis (EGPA), formerly known as allergic granulomatosis, is an extremely rare autoimmune condition that causes inflammation of small and medium-sized blood vessels (vasculitis) in persons with a history of airway allergic hypersensitivity (atopy).
Degenerative disease is the result of a continuous process based on degenerative cell changes, affecting tissues or organs, which will increasingly deteriorate over time.
Respiratory diseases, or lung diseases, are pathological conditions affecting the organs and tissues that make gas exchange difficult in air-breathing animals. They include conditions of the respiratory tract including the trachea, bronchi, bronchioles, alveoli, pleurae, pleural cavity, and the nerves and muscles of respiration. Respiratory diseases range from mild and self-limiting, such as the common cold, influenza, and pharyngitis to life-threatening diseases such as bacterial pneumonia, pulmonary embolism, tuberculosis, acute asthma, lung cancer, and severe acute respiratory syndromes, such as COVID-19. Respiratory diseases can be classified in many different ways, including by the organ or tissue involved, by the type and pattern of associated signs and symptoms, or by the cause of the disease.
Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.
Barakat syndrome, is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It was first described by Amin J. Barakat et al. in 1977.
Empty sella syndrome is the condition when the pituitary gland shrinks or becomes flattened, filling the sella turcica with cerebrospinal fluid instead of the normal pituitary. It can be discovered as part of the diagnostic workup of pituitary disorders, or as an incidental finding when imaging the brain.
Mystery Diagnosis is a television docudrama series that aired on OWN: Oprah Winfrey Network. Each episode focuses on two or more individuals who have struggled with obscure medical ailments, and their quest for a diagnosis. The program details the patients' and doctors' difficulty in pinpointing a diagnosis; often due to nonspecific symptoms, masquerading syndromes, the rarity of the condition or disease, or the patient's case being an unusual manifestation of said condition or disease.
Uplifting Athletes is a non-profit organization of current American college football players, benefiting those with rare diseases. The group was established in 2003 and is a 501(c)3.
Chickenpox, also known as varicella, is a highly contagious disease caused by the initial infection with varicella zoster virus (VZV). The disease results in a characteristic skin rash that forms small, itchy blisters, which eventually scab over. It usually starts on the chest, back, and face. It then spreads to the rest of the body. Other symptoms may include fever, tiredness, and headaches. Symptoms usually last five to seven days. Complications may occasionally include pneumonia, inflammation of the brain, and bacterial skin infections. The disease is often more severe in adults than in children. Symptoms begin 10 to 21 days after exposure to the virus.
Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. The primary features are infertility and small poorly functioning testicles. Often, symptoms are subtle and subjects do not realize they are affected. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. Often it is only at puberty that these symptoms are noticed. Intelligence is usually normal; however, reading difficulties and problems with speech are more common. Symptoms are typically more severe if three or more X chromosomes are present.
The National Organization for Rare Disorders (NORD) is an American non-profit organization aiming to provide support for individuals with rare diseases by advocating and funding research, education, and networking among service providers. It was founded in 1983 by Abbey Meyers, along with individuals and rare diseases leaders of rare disease support groups, and it is a 501(c)3 tax exempt organization.
Korea Disease Control and Prevention Agency, formerly Korea Centers for Disease Control and Prevention is an organisation under the South Korean Ministry of Welfare and Health that is responsible for organ transplant and advancement of public health by managing prevention, survey, quarantine, trial and research on infectious diseases, chronic and rare illnesses and injuries. It was founded in December 2003 and is located in Osong Health Technology Administration Complex in Cheongju.The organisation is led by vice-ministerial-level Commissioner of KDCA.
Multisystem inflammatory syndrome may refer to:
References
- ↑ "Pilotto syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 17 March 2019.
- ↑ "Pilotto syndrome". Health Grades Inc. Archived from the original on 9 February 2010. Retrieved 17 February 2010.