Some diseases are unknown to the general public because they remain very rare. To date, more than 7000 rare diseases are listed, 80% of them having a genetic origin.
Sickle cell disease
Sickle cell disease, or hemoglobinosis S, sicklemia, or sickle cell anemia, is a genetic disease that is characterized by a modified composition of hemoglobin.
The transport of oxygen in the blood cannot be carried out correctly, which leads to obstruction of the vessels and arteries. Due to lack of oxygen supply, ischemia is often observed with the consequences of infarctions (myocardium, cerebral, etc.).
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Hypertrichosis
Hypertrichosis is a hormonal disease that is characterized by excessive, if not invasive, hair on the entire body or part of it. It affects both women and men, but remains extremely rare: there are only several dozen cases recorded to date.
The disease is not fatal and hormone treatment can be put in place to reduce hair, although it will remain abnormally present.
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis, also known as Charcot's disease, is a neurological disease that attacks nerve cells, especially motor neurons. These degenerate or die gradually and are therefore no longer able to send messages to the muscles. The muscles become weaker and weaker and atrophy.
The course of the disease is rapid and its outcome is often fatal.
Leukodystrophy
Leukodystrophy includes all diseases characterized by a disruption of myelination. People affected by these almost exclusively genetic diseases, no longer produce or almost no more myelin. Myelin is a substance consisting mainly of lipids that serve to isolate and protect nerve fibers.
Without myelin, the conduction of nerve messages can no longer be carried out correctly and the brain gradually becomes sclerotic.
Spinal muscular atrophy
Spinal muscular atrophy is a group of neuromuscular diseases that are characterized by more or less progressive muscle weakness due to degeneration and loss of anterior motor neurons of the spinal cord. It particularly affects the muscles of the feet and legs, and those of the hands and forearms.
Some specialists compare distal spinal muscular atrophy to the spinal forms of Charcot's disease.
Duchenne myopathy
Duchenne myopathy is a disease characterized by dystrophin deficiency.
Dystrophin is a protein found in muscle tissue and essential for its proper functioning.
It can affect all muscles without exception, including the heart muscle or the diaphragm, both of which are the most serious causes of the disease.
Necrotizing fasciitis
Necrotizing fasciitis is a rare infection of the skin and subcutaneous tissues along the fascia (fibrous membranes used to protect muscles).
It is caused by group A streptococcus essentially and by "skin-eating" bacteria.
Severe pain, sudden swelling of the tissues, a feeling of heat, redness, and then a dark coloration of the skin ranging from purple to black are observed. Amputation is sometimes essential to save the patient.
Cystic fibrosis
Cystic fibrosis or cystic fibrosis is a genetic disease that affects the lungs.
The dysfunction of the protein CFTR (cystic fibrosis transmembrane conductance regulator) causes an increase in the viscosity of mucus and its accumulation in the aerodigestive tract.
Chronic inflammation of the bronchi with bacterial superinfection is the cause of the deterioration of the lung condition and the general condition of the patient.
The life expectancy of patients depends largely on their care.
Fatal family insomnia
Fatal familial insomnia or transmissible spongiform encephalopathy is a genetic disease involving an abnormality in the PrPc protein gene.
It is manifested by a progressive inability to fall asleep. The first symptoms resemble classic insomnia before being totally deprived of sleep.
This disease, extremely rare, occurs on average around the age of 51. Death occurs fatally due to lack of sleep within six to thirty-two months, it all depends on the general condition of the patient.
Porphyria
Porphyria, also called vampire syndrome, is characterized by the disruption of the production of heme, one of the eight enzymes necessary for the composition of hemoglobin.
This deficiency is manifested by excessive pallor, photosensitivity (intolerance to light), resulting in swelling, redness, and itching of the skin.
It can also cause abdominal pain and nervous and psychological disorders.
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