Welcome to the world of the weird and wonderful. You will be taken on a run down through five of the most unusual, rare, fascinating and possibly unthinkable disorders that we know exist.
1. Hypertrichosis- ‘Werewolf syndrome’
Imagine having a body covered in so much hair that people mistake you for a werewolf. This is something that sufferers of hypertrichosis have to deal with on a daily basis. Hair growth isn’t restricted to the areas of the body that we consider ‘normal’, instead spreading to areas over their body and face in men, women and children alike. The disorder is extremely rare with fewer than 100 known cases worldwide. But how does this unusual condition come about? Scientists think that there are two causes; one of a genetic nature, and the other developing due to certain external factors. Researchers in China tested the DNA of two unrelated patients with the condition and found that there were extra genes present in the same region of the X chromosome. This extra DNA sits near to a gene involved in hair growth (SOX3) and is thought to switch on this gene, stimulating mass hair production. Next time you have a moan about having to shave or wax to get rid of your unwanted hair, spare a thought for hypertrichosis sufferers.
2. Foreign Accent Syndrome
Whilst this sounds like something from a very strange medical drama, foreign accent syndrome really does exist. Usually occurring as a result of severe brain injury such as stroke or trauma, the patient ends up speaking with an accent distinct from the one they had before. One of the most recent cases occurred after a women suffered from a severe migraine. She woke up in hospital to find that she was speaking with a Chinese accent despite never having visited China. What is to blame for this sudden change in dialect? Scientists have found that damage to the parts of the brain required for speech and movement of muscles during speaking affects how we pronounce words. This changes the timing and rhythm of our speaking. As our tongue forms words in a different way, it sounds as if we are speaking with an accent.
3. Congenital pain insensitivity
A condition where you are unable to feel any pain sounds like an absolute blessing. No headaches, no pain when you’ve broken a bone, or when you whack your knee on the side of a table. But now think about it seriously, imagine not being able to tell if you’ve pushed your body too far exercising or cut your finger whilst chopping up a carrot. Pain is one of our body’s most protective mechanisms, alerting us that something is wrong and needs our attention. Without this basic mechanism we would have no way of knowing when something has gone wrong. Individuals born with this condition have what we call a loss of sensory perception: they are unable to feel pain but can feel pressure and touch. A mutation affecting how the nerve cells form during development is thought to cause the improper functioning of these nerves in response to pain. Sadly, this is likely to occur with other deficits such as mental retardation and in some cases the ability to regulate body temperature. Not being able to feel pain would be extremely advantageous-…if you are a superhero that is. For us mere mortals, not so helpful.
4) Fibrodysplasia Ossificans Progressiva- ‘Stone man syndrome’
Stone man syndrome does what it says on the tin. Cue an image of The Thing from the Fantastic Four- a body essentially made of rock. Slowly over time, sufferers of this excruciatingly painful disorder start turning to bone. Due to a malfunction of the bodies repair mechanism, the gene that is responsible for ossification (bone growing) during development remains active. This gene is usually switched off after the development of bones in the fetus. In time, muscles, tendons and ligaments slowly begin to harden and turn to bone. As the degree of ossification worsens, everyday tasks such as tying your shoelaces or walking to the shop become an impossible task. Would surgery provide suitable relief? In short, no. Surgery is not considered an option as this type of trauma causes the body to attempt to repair the damaged area – creating more bone and more damage than before. Although there are around 700 confirmed cases of FOP worldwide, there is very little known about how to treat it. Remember next time your body feels stiff and uncomfortable that what you are experiencing couldn’t even scratch the surface of what these people of made of stone are subjected to.
5) Trimethylaminuria- ‘Fish odour syndrome’
Trimethylaminuria is a rare metabolic condition that can be embarrassing for individuals suffering from it. An enzyme (FM03) that is needed to breakdown trimethylamine (TMO) into a substance called trimethylamineoxide is absent from the body. TMO gradually builds up without the enzyme to break it down, and so has to be removed from the body through other outlets such as the skin, urine and breath. Whilst sweating out toxins isn’t unusual, it is the strong fish-like odour that comes partnered with it that is considered abhorrent. The condition is more common in women, possibly irritated by female hormones. Despite the putrid odour, there are no other symptoms associated with it.
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