04 February 2024 , 18:10
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Many of us will have never heard of the world's rarest diseases, despite many of their symptoms being debilitating and incurable.
Sadly, these illnesses often come without a specific treatment plan, because there are not enough patients to participate in scientific research to help establish a cure. Instead, they may be encouraged to make lifestyle changes to help alleviate the symptoms.
Here are five extremely rare diseases that can have debilitating symptoms - including one that can turn muscle into bone, and even prevent sufferers from opening their mouths. While doctors are yet to find a cure for these conditions, there are some alternative ways in which patients can manage their symptoms.
1. Stoneman Syndrome
Stoneman Syndrome is an extremely rare genetic disorder affecting just one in two million people. Its rarity means there is currently no cure. Known medically as Fibrodysplasia Ossificans Progressive (FOP), and colloquially known as Stoneman Syndrome, the condition slowly turns connective tissue such as tendons, muscles and ligaments into bone.
In patients with Stoneman Syndrome, a second skeleton grows over the first, in a process known as heterotopic ossification (HO). This is permanent, and surgical efforts to remove bone growth can actually make things much worse, triggering immense bone growth due to the invasiveness of the procedure.
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This means patients can lose their mobility after a minor fall or a small accident, as bone growth is stimulated.
Symptoms usually start from the neck to shoulders, gradually move to lower parts of the body and finally reach the legs. Body movements will be restricted progressively because the joints get affected with the disorder. The patient finds it difficult to open mouth, which in turn causes trouble while eating and speaking.
2. Alice In Wonderland Syndrome (AIWS)
Alice in Wonderland Syndrome, named after Lewis Carroll's famous novel, was originally coined in 1955 by British psychiatrist Dr John Todd, who flagged similarities between the illness and events experienced by Alice. Its most disturbing symptom is an altered body image and distorted visual perception, causing patients to become confused about the size and shape of their own body parts.
The most common body parts affected are the head and hands, where growth seems more usual than shrinkage.
In patients who experience distorted visual perception, objects will be seen in the wrong size or shape, or in an incorrect perspective. This means people, or objects such as cars and buildings, appear smaller or larger than they actually are, or distances look incorrect.
Further symptoms include:
- Distorted time perception; time moving quickly or slowly.
- Distorted touch perception, e.g. a feeling that the floor is ‘spongy’ under the feet
- Distorted sound perception.
There is no known cure for AIWS, but there may be treatments for possible causes.
Many rare diseases don't yet have a cure due to a lack of research participants (Getty Images)3. Hutchinson-Gilford Progeria Syndrome (HGPS)
Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder that affects one in four million people. Just over 130 cases have been recorded globally since 1886.
Patients with HGPS will experience symptoms of ageing at a very early age, and those born with it typically only live to their mid-teens to early twenties. The condition causes a rapid dramatic appearance of ageing, which starts in childhood. This can be seen in prominent, sunken in eyes, a thin beaky nose, thin lips, a small chin and protruding ears.
Other symptoms include:
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- Alopecia (hair loss)
- Aged-looking skin
- Joint abnormalities
- Loss of fat under the skin (subcutaneous fat)
- Kidney failure
- Loss of eyesight
- Brittle, fragile bones
There is currently no known cure for HGPS.
4. Alkaptonuria
Alkaptonuria, also known as “black urine disease”, is a very rare inherited disorder affecting one in one million people globally. The illness can turn urine and other parts of the body a dark colour, and can lead to a host of problems over time.
This is because it prevents the body from fully breaking down two protein building blocks known as tyrosine and phenylalanine, which causes a build-up of a chemical called homogentisic acid in the body. A series of chemical reactions allow for amino acids to be broken down, but in Alkaptonuria, a substance produced along the way known as homogentisic acid, can't be broken down in the same way.
It can build up various parts of the body, including the cartilage, tendons, bones, nails, ears and heart. It stains the tissues a dark colour and can lead to a host of problems over time, meaning people with this condition usually have a lesser quality of life. The condition does not affect life expectancy.
There is currently no treatment or cure for Alkaptonuria, but a protein-controlled diet can reduce the risk of potential side effects.
5. Chronic Focal Encephalitis (Rasmussen’s Encephalitis)
Rasmussen’s encephalitis is usually seen in children under the age of 10 and causes a host of debilitating symptoms, including frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (known as hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. In even rarer cases, the condition can affect adolescents and adults.
Rasmussen’s encephalitis can lead to the destruction or removal of a part of the affected patient's brain. Most people who have it will experience frequent seizures, as well as progressive brain damage in the affected hemisphere of the brain. This happens over the course of the first 8-12 months, followed by a phase of permanent, but stable, neurological deficits.
While there is no way to prevent the disability, there are treatments that can help decrease brain inflammation at the acute stage. In Germany, there are just 2.4 cases per 10 million people, while the UK has reported just 1.7 per 10 million people.