Rare Diseases
Rare Diseases
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Overview - Rare Diseases
Overview - Rare Diseases
A rare disease or an orphan disease is a medical disorder that occurs in a very small fraction of the population, usually with a broad variety of signs and symptoms, scarce medical experience, and with few easily available treatments because they are infrequently encountered; most rare disorders have a genetic etiology and are chronic, progressive, and occasionally life-threatening, which creates a large problem for diagnosis and treatment management for families and patients.
Genetic origin: The majority of rare diseases arise from genetic mutations and are thus typically present throughout an individual's lifetime.
Diagnostic difficulties: Because they are so rare, they can be problematic to diagnose as their symptoms tend to be subtle or resemble more common conditions, and patients may experience a "diagnostic odyssey" of undergoing several tests before a diagnosis is reached.
Treatment restrains: Sparse studies and small numbers of patients generally result in the lack of, or few effective treatments for rare diseases.
Influence on quality of life: The chronic course of most rare diseases can significantly influence an individual's quality of life, with effects on his/her daily routine, work, and social interaction.
Examples of rare diseases: Cystic Fibrosis, Huntington's disease, Muscular dystrophy, Osteogenesis imperfecta, Rett syndrome, and Neurofibromatosis.
Key features of the management of rare diseases:
Patient advocacy groups: Organizations dedicated to particular rare diseases may be important in generating awareness, funding research, and offering information to families and patients.
Genetic testing: Technological advances in genetic testing can greatly enhance diagnosis in rare diseases.
Orphan drug development: Drug manufacturers are encouraged to create treatments for rare diseases by "orphan drug" designation, which offers regulatory and economic support.
Genetic Rare Diseases
Genetic Rare Diseases
Caused due to mutations & abnormalities in DNA.
Can occur due to spontaneous Mutations or can be inherited from parents to their children.
TYPES OF GENETIC RARE DISEASES:
Single Gene Disorders:
Also called 'Monogenic Diseases'.
It is caused due to mutation in single gene only.
Examples:
(i) Cystic Fibrosis – Affects the lungs and digestive system.
(ii) Huntington’s Disease – Affects the brain, causing movement and cognitive issues.
(iii) Sickle Cell Disease – Causes misshaped red blood cells leading to pain and organ damage.
Mitochondrial Disorders:
Mutation in the DNA of mitochondria can cause this type of rare genetic diseases.
Examples:
(i) Leigh Syndrome – Affects the nervous system and causes developmental delays.
(ii) MELAS Syndrome – Causes muscle weakness, stroke-like episodes, and seizures.
Chromosomal Disorders:
Due to addition or deletion or abnormal chromosome.
Examples:
(i) Down Syndrome – Caused by an extra copy of chromosome 21.
(ii) Turner Syndrome – Affects females due to a missing or incomplete X chromosome.
(iii) Cri du Chat Syndrome – A rare disorder caused by the deletion of part of chromosome 5.
Complex Genetic Disorders:
Multiple genetic and environmental factors contributes in causing this type rare disease.
Examples:
(i) Ehlers-Danlos Syndrome (EDS) – Affects connective tissues, leading to hypermobility and fragile skin.
(ii) Marfan Syndrome – Affects connective tissues, leading to heart and eye problems.
Non Genetic Rare Diseases
Non Genetic Rare Diseases
Rare diseases which are not inherited from the parents to their offspring is termed as Non-genetic rare diseases.
Causes are due to environmental, autoimmune, infectious or maybe unknown factors.
1. Infectious Rare Diseases
Caused by - bacteria, viruses, or parasites.
Examples:
(i) Ebola Virus Disease – A deadly viral infection.
(ii) Creutzfeldt-Jakob Disease (CJD) – A rare brain disease caused by prions.
(iii) Nocardiosis – A bacterial infection affecting the lungs, brain, and skin.
2. Autoimmune Rare Diseases
When our healthy immune system starts to mistakenly attack our own body's cells.
Examples:
(i) Myasthenia Gravis – Causes muscle weakness.
(ii) Goodpasture Syndrome – Attacks the lungs and kidneys.
(iii) Paraneoplastic Pemphigus – A severe blistering skin disorder linked to cancer.
3. Environmental & Toxic Exposure Diseases
Caused by environmental factors or exposure to chemicals.
Examples:
(i) Black Lung Disease – Caused by inhaling coal dust.
(ii) Minamata Disease – Caused by mercury poisoning.
(iii) Gulf War Syndrome – A condition affecting veterans due to toxic exposures.
4. Rare Cancers
Cancers affecting a small population.
Examples:
(i) Ewing Sarcoma – A rare bone cancer.
(ii) Merkel Cell Carcinoma – A rare and aggressive skin cancer.
(iii) Chordoma – A tumor in the spine or skull.
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