Rare Diseases – 5 Diseases You Have Never Heard
Dr. Nikhil Eric Saldanha
July 29, 2022
Dr. Nikhil Eric Saldanha
July 29, 2022
Rare diseases are those that are life-threatening or persistently disabling. Unfortunately, many rare diseases are currently without therapies or treatments due to a severe lack of scientific investigations. Rare diseases can have a variety of causes. Most of them are hereditary, with alterations in genes or chromosomes being the leading cause. In certain circumstances, you may note disease-causing genetic changes.
Spreading awareness is critical because it allows people to determine if they are dealing with any condition that can be cured or not. The growing focus on rare diseases gives hope to the millions of people who suffer from them. Some rare diseases include tumours, auto-immune disorders, metabolic abnormalities, and hereditary deformities.
The rare diseases community, including the National Institutes of Health (NIH), has made numerous efforts and emphasised increasing the number of possible therapies and diagnostics for rare diseases. However, despite these efforts, most uncommon diseases still lack appropriate diagnostics and treatments.
A rare disease is one in which one or more of the following symptoms occur:
There are approximately 5,000 to 8,000 distinct uncommon diseases, most of which have a genetic basis. While there are many various types of rare diseases, they all have a few elements in common, such as the fact that they frequently:
There is no universally agreed-upon cut-off number for what constitutes a rare disease. As a result, an uncommon illness in one part of the world or among one group of individuals may be widespread. According to new research on 3585 uncommon diseases, about 4% of the global population is affected at any given time.
Fibrodysplasia ossificans progressive (FOP), also referred to as Stoneman Syndrome, is a condition in which connective tissue, like tendons, muscles, and ligaments, gradually changes into bone.
One in two million people
According to some studies, it develops from the neck to the shoulders. Later, it spreads down the body to the lower extremities and the legs. Since the condition affects the joints, body motions become increasingly limited. The patient suffers difficulty opening the mouth, making eating and conversing hard. It is not affected by race or gender. During the first ten years of life, the disease starts developing postnatally.
Early diagnosis is critical for genetic counselling, limiting anxiety, and preventing severe pains. Radiological examinations, particularly plain radiographs, are essential in diagnosing this disorder. They help detect heterotopic ossification, typical significant toe deformities, and other related abnormalities. Therefore, you should inform radiologists of the condition’s diagnostic results.
Since this condition affects such a small number of people, the symptoms might be mistaken for fibrosis or malignancy. Biopsies are performed due to the misdiagnosis, putting the individual in even more danger. Owing to its rarity, there are presently no therapeutic alternatives.
A demyelinating disease is an ailment that causes damage to the protective coating (myelin sheath) that covers nerve fibres in the brain, optic nerves, and spinal cord. Nerve impulses are slowed down or freeze when the myelin sheath is destroyed, resulting in neurological disorders.
The most frequent demyelinating disease of the central nervous system is multiple sclerosis (MS). As per research, under MS, the immune system damages the myelin sheath or the cells that make and sustain this sheath. The 2020 global prevalence of multiple sclerosis is 35.9 [95% CI: 35.87, 35.95] per 100,000 people.
The sheath becomes inflamed and injured, and the nerve fibres it supports suffer. It results in scarring of different areas in the body. Vision loss, muscular weakness, muscle spasms, loss of coordination, discomfort, and disturbances in bladder and bowel movement are all frequent symptoms of MS and other demyelinating illnesses.
One in a million people
There are no therapies for demyelinating disorders or their development, and everybody’s symptoms are distinct. It is critical to get therapy as soon as possible. The focus of treatment stays on changing the clinical course of the disorder and taking care of the symptoms.
Depending on your disease, health experts may advise a range of medication therapy. Physical therapy, muscle relaxants, and pain and tiredness medicines are all options for treating symptoms. Visit your physician about the appropriate treatment options for your condition.
Alkaptonuria, sometimes known as ‘black urine illness,’ is a rare genetic ailment. It prevents the body from properly breaking down two amino acids, tyrosine, and phenylalanine. It causes the body to accumulate a substance called homogentisic acid. In addition, it can discolour urine and other regions of the body, causing various issues with time.
According to studies, amino acids break down by a chain of chemical processes in most cases. However, with alkaptonuria, a chemical created along the way, homogentisic acid, is incapable of further breakdown. Instead, it occurs due to a defective enzyme. The genetic disorder results in the enzyme being made defective. Thus the defective enzyme cannot break down the homogentisic acid, and its increases in our body.
Homogentisic acid progressively accumulates in tissues throughout the body over several years. It may form in practically every physical part, including cartilage, tendons, bones, nails, ears, and the heart. It darkens the tissues and creates a variety of complications.
One in a million people
Alkaptonuria is a chronic illness for which there is presently no medication or cure. However, as per an authentic source, a drug called nitisinone has so far looked promising. Nitisinone lowers homogentisic acid levels in the body.
When using nitisinone for alkaptonuria in adults, a low-protein meal can help reduce the likelihood of unwanted adverse effects. It’s something your physician or dietician can help you with. In addition, medications and lifestyle changes may help you manage the symptoms.
If the illness is discovered in childhood, limited protein intake may help to delay its development by lowering tyrosine and phenylalanine amounts in the body.
If you have alkaptonuria, you probably will believe that exercising may aggravate your symptoms. On the other hand, regular mild exercise can strengthen your muscles and joints. Physical activity also helps you relax, lose weight, and improve your posture, alleviating your symptoms.
It’s a well-known fact that a lack of sleep harms a person’s physical and mental health. Though many can manage our sleeping habits and prevent the adverse effects of sleep deprivation by making proper lifestyle adjustments, a few people suffer from a rare disorder known as fatal familial insomnia. This state is a hereditary degenerative brain condition that causes a person to have more severe kinds of insomnia, ultimately leading to severe physical and mental impairment. Furthermore, fatal familial insomnia can affect the autonomic nervous system that controls activities, including breathing, heart rate, and body temperature.
As per studies, this disorder results from a variation in the prison-related protein gene, which controls the production of the prion protein. Anomalies in the protein might lead to neurodegenerative disorders. In this disease, the damaged proteins build up in the thalamus, a brain area that controls a person’s capacity for movement and sense. This damages brain cells, resulting in the acute physical and mental symptoms associated with this disorder.
One in a million people
Some people may have double vision (diplopia) or jerky eye movements (nystagmus). There might be swallowing issues (dysphagia) or slurred speech (dysarthria). Some people eventually struggle to coordinate voluntary motions (ataxia). Tremors or twitchy, jerking muscular spasms (myoclonus) can also occur.
The method failed despite hopes that antipsychotic medications and malaria-fighting pharmaceuticals may help treat the condition. Unfortunately, there is no solution for fatal familial insomnia, and research into the disorder is underway.
AWS (Alice in Wonderland Syndrome) is a unique disorder that produces momentary confusion and altered perception. The name of this disease is a reference to Lewis Carroll’s widely known children’s novel Alice’s Adventures in Wonderland, wherein Alice experiences her body becoming more significant and more minor, among other unusual encounters.
The experience of Alice was very similar to the symptoms of this rare disease. You may perceive yourself to be bigger or smaller than you are. You could also notice that the space you’re in or the objects around you shift and appear further away or nearer than they are. These occurrences are not because of vision impairment or a delusion. These result from changes in the brain’s functioning, as per research.
Symptoms include twisted body image, change in one’s sense of time, and metamorphosis. Different senses, including vision, touch, and hearing, can be affected by this disorder. You can also lose track of time. As a result, time can appear to pass more quickly or slowly than you believe.
As per studies, AWS predominantly affects children and young people. AWS predominantly affects children and young people, according to Trusted Source. Although most people grow out of their distorted views as they become older, the possibility of experiencing it as an adult still exists.
The therapy for AIWS is determined based on the underlying cause. If migraine is the cause of the problem, doctors may recommend treating it with a special diet and preventive medicine. Antiepileptics are the drug of choice if epilepsy is the cause of the symptoms. They may prescribe antiviral drugs when the infection is the cause. However, there is a lack of adequate data.
Disease awareness is the knowledge of a medical problem ahead of time so that You might avoid its terrible consequences. It is about understanding the elements that cause disease, its symptoms, and how to prevent it.
Rare and ultra-rare disorders pose a significant research challenge since they emphasise and intensify the need for collaboration and knowledge sharing on the one hand and for directing resources to dedicated centres of excellence to develop and offer multidisciplinary skills on the other. In general, the rarest disease final diagnoses happen using a genetic test that focuses on a small number of conditions.
Although experts understand more about rare diseases every year, the actual aetiology of many of them remains unclear. People with rare diseases are increasingly benefiting from novel medicines, some of which result from cutting-edge medical technology.
However, there is currently no viable treatment for less than 5% of the more than 7,000 uncommon diseases that impact humans. Medical knowledge is unique, information is scant, access to adequate care is lacking, and research is low due to the low frequency of each condition.
The unfortunate reality is that rare diseases go untreated for too long because patients, families, and physicians are unfamiliar with the disease, and symptoms may not always be evident to healthcare practitioners who have never seen it before.
Rare diseases are by definition obscure and unknown, and as a result, they fall between the cracks when it comes to research funding and therapy development. However, a new study has revealed that they are more widespread than previously thought.
Various organisations like NORD America (National Organization for Rare Diseases) help spread awareness of the uncommon diseases. Individuals should get acquainted with the signs and symptoms of the conditions, which will help them sustain their health.
A. As per studies, RPI Deficiency, or ribose-5 phosphate isomerase deficiency, is the world’s rarest disease, with just one instance in history documented by MRI and DNA analysis.
A. Any person at any age can be affected by rare diseases. They might be either acute or chronic. Many of them are hindering and provide a constant threat of death. With the existing medical options, some are unavoidably lethal.
A. Yes, Multiple Sclerosis (MS) is a rare disease. It is a type of demyelinating disorder. It is a condition that affects the central nervous system. Under MS, the myelin sheath, which refers to the collection of cells that form and maintain the sheath, is damaged by the immune system. As a result, the sheath is inflamed and harmed, affecting the nerve fibres supported by it.
A. While the diagnosis of every rare disease varies, there are specific standard methods of diagnosis for every rare disease. One of these methods includes using a genetic test that focuses on a small number of disorders.
A. Tumefactive multiple sclerosis (TMS) is a rare kind of Multiple Sclerosis (MS) that has symptoms comparable to a brain tumour. The disease occurs as tumour-like lesions greater than two centimetres on magnetic resonance imaging (MRI) images.
A. Myelination is a normal physiological process in which oligodendrocytes in the brain form layers of myelin that are present around the neuronal axons and function as an insulating layer for the passage of electric action potentials down the neuronal axon.
A. Any disease that causes injury to the protective coating (myelin sheath), which covers nerve fibres in the brain, optic nerves, and spinal cord, is known as a demyelinating disease. The damage to myelin sheath causes the nerve impulses to slow down or cease, resulting in neurological disorders.
A. There are various rare diseases listed on the NORD official website. However, some conditions, to name a few apart from the ones listed above, are:
A. Atherosclerosis, cardiovascular disease, cancer, arthritis, cataracts, osteoporosis, type 2 diabetes, hypertension, and Alzheimer’s disease are old age disorders. All of these disorders increase in frequency as people get older.
A. Incurable diseases lack treatment and are infectious, non-infectious, genetic, metabolic, neoplastic, or autoimmune. Rare disorders, which are inborn in 80% of instances, are considered incurable. Some incurable diseases are AIDS, Creutzfeldt–Jakob disease, and Lupus Erythematosus.