The 10 most common rare diseases (2023)

The 10 most common rare diseases (1)

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


  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)

1: Progressive Multifocal Leukencephalopathy (PML)

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.


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2: Paraneoplastic Neurologic Syndrome (PNS)

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.


3: Dercum disease

The 10 most common rare diseases (2)

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.


4: Familial idiopathic basal ganglia calcifications (Fahr's disease)

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).

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5: Neuromyelitis optica (Morbus Devic)

The 10 most common rare diseases (3)

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.

6: Tardive Dyskinesie

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.


7: Landau-Kleffner syndrome

The 10 most common rare diseases (4)
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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.


8: Alpha-1-Antitrypsin-Mangel (A1AD)

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.


9: Cyclic Vomiting Syndrome (CVS)

The 10 most common rare diseases (5)

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.


10: Spinal Muscular Atrophy (SMA)

The 10 most common rare diseases (6)

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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How many rare diseases are there *? ›

How many rare diseases are there? There are more than 7,000 rare diseases, according to the National Institutes of Health (NIH).

What are the names of rare diseases? ›

Rare Diseases
  • Agammaglobulinemia.
  • Goodpasture Syndrome.
  • Granulomatosis with Polyangiitis (GPA, formerly Wegener Granulomatosis)
  • Leukocyte Adhesion Deficiency.
  • Pediatric Bruton Agammaglobulinemia.
  • Pediatric Severe Combined Immunodeficiency.
  • Schnitzler Syndrome.
  • X-Linked (Bruton) Agammaglobulinemia.

What is a very rare disease? ›

A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million Americans.

What are the 10 genetic disorders? ›

Genetic disorders
  • Albinism. Albinism is a group of genetic conditions. ...
  • Angelman syndrome. A rare syndrome causing physical and intellectual disability. ...
  • Ankylosing spondylitis. ...
  • Apert syndrome. ...
  • Charcot-Marie-Tooth disease. ...
  • Congenital adrenal hyperplasia. ...
  • Cystic fibrosis (CF) ...
  • Down syndrome.

How many diseases have no cure? ›

“We generally say: Several thousand diseases affect humans of which only about 500 have any U.S. Food and Drug Administration-approved treatment,” said Cindy McConnell, a spokeswoman at NIH's National Center for Advancing Translational Sciences (NCATS).

Why are rare disease rare? ›

A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population. It is estimated that globally around 6000 to 8000 rare diseases exist with new rare diseases being reported in the medical literature regularly.

How many main diseases are there? ›

There are four main types of disease: infectious diseases, deficiency diseases, hereditary diseases (including both genetic diseases and non-genetic hereditary diseases), and physiological diseases. Diseases can also be classified in other ways, such as communicable versus non-communicable diseases.

What are the top 10 deadliest diseases? ›

Top 10 Deadly Diseases in the World
  1. Coronary Artery Disease (CAD) CAD is a condition where vessels supplying blood to the heart become narrowed.
  2. Stroke. ...
  3. Lower Respiratory Infections (LRI) ...
  4. Chronic Obstructive Pulmonary Disease (COPD) ...
  5. Diarrheal Diseases. ...
  6. HIV/AIDS. ...
  7. Respiratory Cancers. ...
  8. Tuberculosis. ...

What are the 7 killer diseases? ›

7 Deadliest Diseases in History: Where are they now?
  • The Black Death: Bubonic Plague. ...
  • The Speckled Monster: Smallpox. ...
  • Severe Acute Respiratory Syndrome (SARS) ...
  • Avian Influenza: Not Just One For The Birds. ...
  • Ebola: On The Radar Again. ...
  • Leprosy: A Feared Disease That Features In The Old Testament.
Aug 15, 2022

What are the 6 killer diseases? ›

These six are the target diseases of WHO's Expanded Programme on Immuni- zation (EPI), and of UNICEF's Univer- sal Childhood Immunization (UCI); measles, poliomyelitis, diphtheria, pertussis (whooping cough), tetanus and tuberculosis.

What are 3 common diseases that are hereditary? ›

Here are some of the most commonly inherited health conditions according to the National Center for Biotechnology Information of the U.S. National Library of Medicine.
  • Heart Disease. ...
  • Asthma. ...
  • Diabetes. ...
  • Single Gene Disorders. ...
  • Cancer.

What disease is slow death? ›

The slow death: Alzheimer's disease.

What are the hardest diseases to live with? ›

Debilitating Diseases – 12 Diseases that change millions of lives
  1. Alzheimer's and Dementia.
  2. Amyotrophic Lateral Sclerosis (ALS) – Lou Gherig's Disease. ...
  3. Parkinson's Disease. ...
  4. Multiple Sclerosis (MS) ...
  5. Scleroderma. ...
  6. Cystic Fibrosis. ...
  7. Chronic Obstructive Pulminary Disease (COPD) ...
  8. Cerebral Palsy. ...

What are the 20 common diseases? ›

Common Infectious Diseases
  • Chickenpox.
  • Common cold.
  • Diphtheria.
  • E. coli.
  • Giardiasis.
  • Infectious mononucleosis.
  • Influenza (flu)

Is a rare disease a disability? ›

Yes, you can get Social Security Disability if you've been diagnosed with a rare disease. But, a diagnosis alone, even if it's a rare disease that a lot of doctors and medical providers are not familiar with, is not enough to get Social Security Disability just based on the diagnosis.

What is the most common disease? ›

The 10 Most Common Health Conditions in the United States
  • Heart Disease.
  • Cancer.
  • Chronic Lower Respiratory Diseases (asthma, emphysema, and chronic bronchitis)
  • Obesity.
  • Alzheimer's Disease.
  • Diabetes.
  • Substance Abuse.
  • Influenza and Pneumonia.
Aug 23, 2022

Is Parkinson's a rare disease? ›

Parkinson's is the second-most common neurodegenerative disease after Alzheimer's disease. Nearly 90,000 people in the U.S. are diagnosed with PD each year. More than 10 million people worldwide are living with PD.

What are the big 4 diseases? ›

In a world of conflicting headlines and confusing research, people constantly wonder if there is anything they can do to improve their chances of avoiding the big four diseases—cancer, heart disease, diabetes and dementia/Alzheimer's.

What are the 4 major diseases? ›

Cardiovascular diseases account for most NCD deaths, or 17.9 million people annually, followed by cancers (9.3 million), chronic respiratory diseases (4.1 million), and diabetes (2.0 million including kidney disease deaths caused by diabetes).

What are the 7 most common chronic diseases? ›

The Top 7 Most Common Chronic Diseases in the U.S.
  • What is a Chronic Disease? ...
  • Heart Disease. ...
  • Cancer. ...
  • Chronic Lung Disease. ...
  • Stroke. ...
  • Alzheimer's. ...
  • Diabetes. ...
  • Chronic Kidney Disease.

What illness has no cure? ›

cancer. dementia, including Alzheimer's disease. advanced lung, heart, kidney and liver disease. stroke and other neurological diseases, including motor neurone disease and multiple sclerosis.

What diseases have no cure? ›

Many conditions do not have a cure but symptoms can be managed with appropriate treatemnt such as cancer. dementia, including Alzheimer's disease, advanced lung, heart, kidney and liver disease, stroke and other neurological diseases, including motor neurone disease and multiple sclerosis.

What are the top 3 deadliest diseases? ›

Read on to see the top 10 diseases that cause the most deaths worldwide, according to the World Health Organization (WHO).
  1. Ischemic heart disease, or coronary artery disease. ...
  2. Stroke. ...
  3. Lower respiratory tract infections. ...
  4. Chronic Obstructive Pulmonary Disease. ...
  5. Tracheal, bronchial and lung cancer. ...
  6. Diabetes.

What is the only human disease to have been? ›

Widespread immunization and surveillance were conducted around the world for several years. The last known natural case was in Somalia in 1977. In 1980 WHO declared smallpox eradicated – the only infectious disease to achieve this distinction.

What are long term fatal diseases? ›

Chronic diseases such as heart disease, cancer, and diabetes are the leading causes of death and disability in the United States.

Which disease does not have a vaccine? ›

But there is still — despite 30 years of effort — no AIDS vaccine. There is no universal flu vaccine. There are no vaccines with long-lasting protection against malaria or tuberculosis. Special offer: Subscribe for $1 a week for the first year.

How many diseases exist? ›

Jennifer Sherman, press secretary for the House Energy and Commerce Committee, pointed to an estimate published by the University of Michigan Medical School that “there are roughly 10,000 diseases afflicting humans, and most of these diseases are considered 'rare' or 'orphan' diseases.”


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