The 10 most common rare diseases (2023)

Everyone has heard about itKrebsor HIV, but what about alpha-1 antitrypsin deficiency? Or even Dercum's disease?

Aside from the more common ailments that affect us or our loved ones that can draw the attention of the press or charities, there are many other ways of getting sick and dying. Maybe it isVirus, or it could be a genetic disorder. In any case, they all have one thing in common: They are no fun.

We're going to look at the 10 most common rare diseases you may never have heard of — and others you hope you never will again.

Disorder descriptions courtesy of the National Organization for Rare Disorders (NORD). To search their extensive rare disease database - including contact information for related organizations - visit their website atwww.rarediseases.org.

contents

1. Progressive Multifocal Leukencephalopathy (PML)
2. Paraneoplastic Neurologic Syndrome (PNS)
3. Dercum disease
4. Familial idiopathic basal ganglia calcifications (Fahr's disease)
5. Neuromyelitis optica (Morbus Devic)
6. Tardive Dyskinesie
7. Landau-Kleffner Syndrome
8. Alpha-1-Antitrypsin-Mangel (A1AD)
9. Cyclic Vomiting Syndrome (CVS)
10. Spinal Muscular Atrophy (SMA)

Progressive multifocal leukoencephalopathy (PML) is a neurological disorder characterized by the destruction of myelin, an oily substance that helps protect nerve cells in the brain and spinal cord, also known as the white matter of the central nervous system (CNS). It is caused by a virus called the JC virus (JCV), named after the initials of the patient in whom it was first detected. The virus is widespread and is found in at least 85% of the general adult population. It remains dormant in healthy individuals and only causes disease when the immune system is severely compromised, such as when the immune system is severely compromised. B. in people with HIV/AIDS or haematological malignancies and in organ transplant recipients who receive immunosuppressive drugs to avoid rejection of the transplanted organ. Overall, PML affects about one in 200,000 people.

The term "progressive" in PML means that the disease keeps getting worse, often resulting in severe brain damage. The term "multifocal" means that JCV causes disease in multiple parts of the brain. However, it is possible for a person with PML to have just one brain lesion instead of multiple lesions. The term "leukoencephalopathy" means that the disease primarily affects the white matter of the brain, or myelin, although there are some rare cases where the gray matter neurons are also affected.

Paraneoplastic neurological syndromes (PNS) are a group of disorders affecting the nervous system (brain, spinal cord, nerves and/or muscles) in cancer patients. The term "paraneoplastic" means that the neurological syndrome is not caused by the tumor itself, but by the immunological reactions that the tumor produces. It is believed that the body's normal immune system interprets the tumor as an invasion. When this occurs, the immunological system mounts an immune response using antibodies and lymphocytes to fight the tumor. The end result is that the patient's own immune system can cause collateral damage to the nervous system, which can sometimes be severe. In many patients, the immune response can cause damage to the nervous system that far outweighs the damage to the tumor. The effects of PNS can completely reverse, although there can be permanent effects as well.

Dercum's disease is an extremely rare condition characterized by multiple painful growths of fatty tissue (lipomas). These growths mainly appear on the trunk, upper arms, and thighs and are just under the skin (subcutaneous). Pain associated with Dercum disease can often be severe. Pain can be caused by these growths pressing on nearby nerves. Dercum disease occurs mainly in adults and affects more women than men. In some cases, affected individuals may also experience weight gain, depression, lethargy, and/or confusion. The exact cause of Dercum disease is unknown.

Fahr's disease is a rare degenerative neurological disorder characterized by abnormal calcium deposits (calcifications) and associated cell loss in certain areas of the brain (eg, basal ganglia). The condition is often referred to as idiopathic basal ganglia calcification or IBGC because there is no obvious explanation for such calcification in these brain regions (idiopathic). Associated symptoms include progressive deterioration in cognitive abilities (dementia) and loss of acquired motor skills. In the further course, paralysis can develop, which is accompanied by increased muscle stiffness (rigidity) and restricted movement (spastic paralysis). Additional abnormalities can include relatively slow, involuntary, continuous writhing movements (athetosis) or chorea, a related condition characterized by erratic, rapid, jerky movements. Some affected people may also experience a gradual deterioration in the nerve fibers that transmit impulses from the retina to the brain (optic atrophy), a condition associated with partial or near total vision loss.

According to reports in the medical literature, Fahr's disease often runs in families. Familial Fahr's disease can be inherited in an autosomal recessive manner or in other affected families (relations) in an autosomal dominant manner. In other cases, the condition appears to occur randomly (sporadically) for unknown reasons. Some experts believe that the condition can sometimes result from an unidentified infection during pregnancy affecting the developing fetus (intrauterine infection).

Neuromyelitis optica, also known as Devic's disease (DD), is a chronic disease of nerve tissue characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). There appear to be two forms of this disease. The classic but rarer type involves a series of attacks over a short period of time (days or weeks) but rarely recurs after the initial outbreak. The second form is more common and characterized by repeated attacks separated by periods of remission. In this form, the interval between attacks can be weeks, months, or years. In its early stages, Devic's disease can be confused with multiple sclerosis.

Tardive dyskinesia (TD) is an involuntary neurological movement disorder caused by the use of dopamine receptor blockers prescribed to treat certain psychiatric or gastrointestinal disorders. Long-term use of these drugs can lead to biochemical abnormalities in the area of ​​the brain known as the striatum. The reasons why some people who take these drugs can get tardive dyskinesia and some people don't are unknown. Tardive dystonia is a more severe form of tardive dyskinesia in which slower twisting movements of the neck and trunk muscles are prominent.

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Landau-Kleffner syndrome (LKS) is characterized by loss of comprehension and expression of verbal language (aphasia) associated with severely abnormal electroencephalic (EEG) findings, often leading to seizures.

Alpha-1 antitrypsin deficiency (A1AD) is an inherited disorder characterized by low levels of a protein found in the blood called alpha-1 antitrypsin (A1AT). This deficiency can predispose a person to several diseases, but most commonly presents as emphysema, less commonly as liver disease, or less commonly as a skin condition called panniculitis. A lack of A1AT allows substances that break down protein (proteolytic enzymes) to attack various body tissues. This leads to destructive changes in the lungs (emphysema) and can also affect the liver and skin. Alpha-1 antitrypsin is normally released by specialized, granular white blood cells (neutrophils) in response to infection or inflammation. A deficiency in alpha-1-antitrypsin leads to an unbalanced (relatively unhindered) rapid breakdown of proteins (protease activity), particularly in the elastic supporting structures of the lungs. This destruction over many years leads to emphysema and is accelerated by smoking and some occupational exposures.

Cyclic Vomiting Syndrome (CVS) is a rare condition characterized by recurrent episodes of severe nausea and vomiting. An episode can last from a few hours to several days and is then followed by a period when the affected person is free from severe nausea and vomiting. This alternating pattern of illness and disease-free periods distinguishes cyclic vomiting syndrome from other similar disorders. The associated nausea and vomiting may be severe enough to cause incapacitation (e.g., people are unable to walk or speak and/or are bedridden). Additional symptoms that commonly occur during an episode include paleness of the skin (pallor), lack of energy (lethargy), abdominal pain, and headache. In some cases, children outgrow these episodes as they get older, although many of these children eventually develop migraines. Cyclic vomiting syndrome affects children more often than adults. In adults, episodes are less common but may last longer. The exact cause of cyclic vomiting syndrome is unknown.

Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by the loss of certain nerve cells called motor neurons. Motor neurons carry nerve impulses from the brain or spinal cord (brain stem) to muscle or glandular tissue. The loss of motor neurons leads to progressive muscle weakness and wasting (atrophy) in the muscles closest to the trunk (proximal muscles), such as the shoulders, hips, and back. These muscles are necessary for crawling, walking, sitting, and head control. The more severe types of SMA can affect the muscles involved in eating, swallowing, and breathing.

SMA is divided into subtypes based on age of onset and severity of symptoms. SMA types 0, I, II, III and IV are inherited as autosomal recessive genetic disorders and are associated with abnormalities (mutations) in the SMN1 and SMA2 genes. Finkel-type SMA is inherited as an autosomal dominant genetic disorder and is associated with mutations in the VAPB gene.

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