Top 5 rarest diseases in medical history
- Rheeya Ramgoolam
- Mar 15, 2021
- 3 min read
What is classified as a rare disease?
The European Union defines a disease or condition as rare if it affects fewer than 1 in 2,000 people within the general population. These are characterised by a broad diversity of disorders and symptoms which vary from patient to patient suffering from the disease. 8 out of 10 rare diseases have a genetic cause whilst the others are a result of infections, allergies and environmental causes and are often chronic or life-threatening. Rare diseases can be single gene, multifactorial, chromosomal or non-genetic. Rare diseases include rare cancers such as childhood cancers and some other well-known conditions, such as cystic fibrosis and Huntington’s disease. In most cases, there are no existing effective cures adding to the high level of pain and suffering endured by patients and their families.
Hutchinson-Gilford Progeria
This disease, resulting from a gene mutation, affects 1 in 8 million children, which causes an appearance of rapid aging. Symptoms often include baldness, a large head relative to body size, limited range in motion and hardening of arteries, increasing the chance of a heart attack or stroke. There is no cure for Progeria, though doctors have tried growth hormone therapy and anticancer drugs, but doctors mainly focus on reducing the complications of the disease.
Fields’ Disease
Named after two sisters, Catherine and Kristie Fields, Fields’ disease is a progressive neuromuscular disease in which the muscles in the body slowly deteriorate, restricting movement and can cause muscle spasms up to 100 times a day. Both sisters were left paralysed and their ability to speak was cut off, and now rely on electronic speech machines to communicate, however there seems to be no apparent effects on cognitive and intellectual abilities. It appears this condition can be passed onto their offspring. Even after numerous tests, no treatment has been found and no definitive cause has been determined, doctors concluded that they were born with it. This disease is a mystery to doctors and is still being studied.
Methemoglobinemia
Commonly known as blue skin disorder, this disease is characterised by an abnormal amount of methaemoglobin, a form of haemoglobin that is transformed to carrying iron in the blood. Healthy people usually have less than 1% methaemoglobin in the blood stream, whereas sufferers have between 10% - 20% methaemoglobin. Some symptoms are shortness of breath, lethargy, stupor, headache and loss of consciousness. As iron carrying haemoglobin carries a reduced amount of oxygen, patients diagnosed with Methemoglobinemia are at a higher risk of developing heart abnormalities, having a seizure or dying prematurely. Patients may require a blood transfusion or exchange transfusion. Oxygen therapy can also be provided if required.
RPI Deficiency
Ribose-5 Phosphate Isomerase deficiency, is the rarest disease in the world with MRI and DNA analysis providing only one case in history. This is a rare inborn error of metabolism in the pentose phosphate pathway. Some symptoms include seizures, psychomotor retardation, delayed development in an area or specific areas and optic neuropathy (damage to the optic nerve). There is no current treatment for ribose-5 phosphate isomerase deficiency.
Microcephaly
A condition that is seen immediately after birth, or maybe even before birth, microcephaly is a condition where a baby’s head is much smaller than expected. This may occur due to the baby’s head not developing properly during pregnancy or stopped growing after birth. Many believe microcephaly is caused by exposure to hazardous substances while the baby is in the uterus, such as radiation. It can also be caused by severe malnutrition and interruption of blood supply to the baby’s brain during pregnancy. Those with microcephaly usually have problems with hyperactivity, dwarfism, seizures, balance problems and speech and motor problems. There is no known cure for microcephaly.
SOURCES:HAT IS A RARE DISEASE?
What is rare disease? At:
Medical definition of fields disease at:
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