Needless to say, the human body is a complex assortment of countless atoms that, in conjunction, perform miraculous bodily functions autonomously as if they were taught and instructed to do so – thanks to the million years of evolution and natural reinforcement. With all the data encoded in our genes, sometimes, they tend to malfunction.
Professionals call such rare malfunctions ‘disorders’ and are perplexed as new human disorders surface up in their case records once in a while.
Here’s a compilation of the ten rarest human disorders recorded till date.
10. Fatal Familial Insomnia
Fatal Familial Insomnia or FFI is an extremely rare genetic disorder that affects, you guessed it, the whole family. Characterized by progressive insomnia and consequently – weight loss, hallucinations, delirium and premature death, FFI is reported to be caused due to mutation to the gene encoding protein PRNP and affects the thalamus part of our brain responsible for circadian rhythm regulation.
FFI’s symptoms begin at the age of 32 and 62 but has been reported to be seen as early as the age of 18. Death occurs usually after 12-18 months after the onset of first symptoms. No cure has been found for FFI although treatments slow down progressive degeneration.
9. Myostatin-related muscle hypertrophy
If “hypertrophy” is a new term for you, it typically means “gaining muscle”. Myostatin-related muscle hypertrophy (MMH) is a rare genetic disorder caused due to mutation in the gene MSTN.
People affected by MMH have reduced body fat and increased skeletal muscle size or in other words, twice the usual amount of muscle mass in their bodies. What makes it fascinating is that MMH has no reported physical and mental downsides. In fact, scientists were successfully able to induce MMH in the laboratory with no reported harm.
Turns out. sometimes disorders can be a useful trait or a “superpower”, if you will.
8. Marie Antoinette syndrome
Named after Queen Marie Antoinette of France whose hair turned white suddenly one day (according to folklore), Marie Antoinette syndrome’s causes are more linked towards emotional roots such as extreme stress and depression rather than mutational changes.
As you might have guessed, it is an alleged condition of hair suddenly turning white. Amusingly enough, all the white hair strands revert back to their original colour in many cases. More emotional stress is directly linked to less pigmentation of the hair and thus, is the primary cause of Marie Antoinette syndrome although it is extremely rare to happen.
If you need another reason why you should stop stressing, there we go!
7. Alien Hand Syndrome
Among the list of non-genetic disorders, Alien Hand Syndrome or AHS is the strangest(or ‘alien’?) of all. Also called Dr Strangelove syndrome, AHS-affected individuals lose complete control over one of their limbs. Unlike in paralysis where the limbs don’t move at all, in AHS syndrome the limbs act on their own as if possessed and controlled by another entity; hence the name.
It is usually caused as a consequence of the surgical separation of the bi-hemispheres of the brain which is often used as a treatment to epilepsy. In other cases, AHS is caused due to stroke, tumour, aneurysm, migraine and brain surgery.
Progeria is an extremely rare autosomal dominant genetic disorder whereby the affected individual exhibits symptoms of aging at a very early age. The condition accelerates the ageing process to an extent where the affected individuals don’t live more than 20 years on average.
Progeria is caused by mutations that weaken the structure of the cell nucleus, making normal cell division difficult.
Symptoms include wrinkled skin, kidney failure, loss of eyesight and cardiovascular complications.
5. Lesch-Nyhan syndrome
Caused in 1 out of 380,000 people(mostly males), Lesch-Nyhan Syndrome (LNS) is a rare inherited disorder caused due to mutation in the HPRT1 gene. LNS-affected people show symptoms of neurological dysfunction and uric-acid overproduction which causes pain in joints (resembling gout).
What’s absolutely disturbing about LNS is that the affected individuals show high propensity towards self-harm and self-mutilation. Oftentimes, the patient’s teeth have to be removed to prevent them from mutilating their own gums and fingers.
It’s a tragic and complex disease with a deceptively mundane cause.
4. Stone Man syndrome
Medically termed as “Fibrodysplasia ossificans progressiva”, Stone Man syndrome is an extremely rare connective tissue disorder caused by mutation of the gene ACVR1 and is the only disease where one organ completely transforms to another. The syndrome alters body’s repair mechanism causing fibrous tissues to be turned into bones or “ossified”. Simply put, instead of creating tissues, your body creates bones instead.
Even if the bones and the associated tissues are surgically removed, more bones grow out replacing the removed tissues and bones. No cure or treatment have been discovered till date.
Pro-tip: Don’t google images for Stone Man syndrome.
Cruising its way on to the list of “Superpower disorders” is hyperthymesia aka Super Memory disorder. It is an extremely rare disorder and only about 60 people in the whole world have been diagnosed with it.
Affected individuals possess extremely detailed and photographic memory and tend to remember every specific event of their lives in vivid details. Besides acing every memory championship and academic tests, hyperthymesia patients suffer with severe side effects.
One of the affected person describes her recollection as “non-stop, uncontrollable and totally exhausting” and as “a burden”.
2. Congenital Analgesia
Congenital analgesia is where a person has an inborn sensitivity to pain. Marked as one of the rarest human disorders, this condition may be considered as a true “superhero” power by many at first glance.
But the truth is congenital analgesia is extremely fatal since pain is a natural requisite for survival. The fact that the victim doesn’t feel any pain also means many injuries, cuts, burns and fractures may go unnoticed for a long while.
Scientists report this disorder to be directly linked with high endorphins in the brain. Opioids like naltrexone and naloxone are reported to have treated this disorder in some patients.
1. RPI Deficiency
At #1 is RPI Deficiency, acronym for “Ribose-5-Phosphate Isomerase deficiency”. With only three cases reported so far, RPI Deficiency is the currently the rarest disease in the whole world.
Symptoms generally include involuntary eye movement, seizures, slow physical movements(psychomotor retardation) and skeletal spasms.