Reviewed By: Pramod Kerkar, MD, FFARCSI

Researchers and scientists have a tendency to dig into the various diseases which lets them to have a better understanding of the same. They also find various ways to treat these ailments. Some diseases are rather strange and rare in kind. These being rare do not eradicate the possibility of them being deadly, but rather increases its possibility. Rare diseases give lesser scope to discover ways of curing them and they are rather difficult to cure. A few of the diseases can be cured with a lot of therapies and operations, but in other cases, the symptoms can only be eased and not be healed completely.

10 Deadliest Rare Diseases found in Humans

  1. Microcephaly

    Microcephaly is the disease that gives rise to a condition in which the head of an infant is of a smaller size than usual. The reason for this is ceased growth of the brain or underdevelopment of the brain. This can either develop after a few years of birth or even at the time of birth.

    Symptoms: The symptoms depend on the severity of microcephaly. Children suffering from microcephaly can show the following symptoms, Short stature or dwarfism, Damaged cognitive development, Distortion of facial features, Hyperactivity, Facing trouble in balancing and coordination, Hampered speech and motor functions, Seizures and Abnormalities in other neurological and brain functions.

    Treatment: As of now, there isn’t any treatment for this syndrome and results in eventual death of the affected person. No medication or cure has been invented so that the normal shape or size of the head can be restored. Any treatment for this solely concentrates on how to lessen the effects of the related neurological disabilities and deformities. Primary treatments are therapy for speech, physicality and occupation for enhancing the abilities and minimizing dysfunction. Medications are given to control hyperactivity, neuromuscular symptoms and seizures.

  2. Menkes Disease

    Menkes disease basically affects the copper level in a body. It results in the decline of the nervous system. Menkes develops mostly in children in their years of infancy. Sometimes these children even fail to live longer than 3 years of age. An early treatment using copper may save the day for some individuals.

    Symptoms: symptoms of this syndrome are Growth retardation, Seizures, Facial droop, Intellectual disability, Increased deterioration in the functioning of the nervous system, Discolored, thin, dull and curly hair that feels rough on touching. This is especially in regions that are susceptible to friction, and is noticed around 2 months after birth, Preterm babies, Difficulty in gaining weight, Weak muscles, Umbilical hernia, Lower levels of blood sugar, A lump found in the head of a c-section surgery baby, Lower levels of temperature, Yellowish eyes and skin that needs to be treated over a long period with light and incubator and Hollowed chest.

    Treatment: this syndrome may end in the death of the baby if not treated immediately, however, even the process of treatment is very complicated. Treatment is done as per the symptoms. Gastronomy tube is inserted through the abdomen to ensure adequate nourishment. If the treatment is started off instantly then the life of the patient can be extended which may also prevent damaging of the brain. Copper in the form of copper chloride or copper histidine is injected under the subcutaneous skin. It is not fed orally as the intestine will not absorb it in such a case. The treatment only results in lesser irritability and fewer seizures.

  3. Hutchinson-Gilford Progeria

    Hutchinson-Gilford Progeria syndrome shows a rapid change in appearance from an infant to an aging person which starts in the childhood itself. At birth, the children appear normal as well as during early years of childhood. However, soon they start experiencing delay in growth and gain weight when compared to other children. The face appears to have more prominent eyes, thin lips and small chin. The syndrome also results in hair loss, joint abnormalities, aged-looking skin as well as difficulty in gaining weight including loss of weight. It hinders motor development and intellectual development. Gestures like walking; sitting and standing cannot be performed efficiently. The arteries get hardened during the childhood of the people suffering from this syndrome. It increases the risk of stroke and heart attack at a very young age.

    Symptoms: The characteristics developed are Protruding ears, Thin lips, Thin nose, Beaked lips, Small chin, Aged-looking skin, Hair loss or alopecia, Joint abnormalities and Problems in weight gain and progressive weight loss

    Treatment: This syndrome gives rise to serious complications that result in death. For the treatment, a team of specialists are required. They chart out the systematical and comprehensive treatment of the affected individual. The team of specialists include physicians who specialize in diagnosing and treating disrupted skeleton, joints, muscles and related tissues; pediatrics; doctors who treat malfunctioning of heart and the important blood vessels; professionals for health care and physical therapists.

  4. Von Hippel-Lindau (VHL)

    Von Hippel-Lindau syndrome is inherited from parents. This syndrome causes the formation of fluid-filled cysts and tumors in various sections of one’s body. These tumors can either be cancerous or non-cancerous. The cysts mostly appear during early years of adulthood, but, it can also occur anytime in the entire lifespan. Hemangioblastomas are characteristic tumors of this syndrome. They grow at the origin of the blood vessels that are newly formed. Even if these are non-cancerous in nature, they do have the capability of causing life-threatening issues. These can develop in the brain or the spinal cord and result in vomiting, headaches and ataxia or problems in muscle coordination. Light-sensitive tissues, such as the retina, are susceptible to the development of these cysts, therefore resulting in vision loss. Cysts can also form in the kidneys, genital tract and pancreas, which eventually leads to kidney cancer and pancreatic cancer. Adrenal glands can also develop these cysts (pheochromocytoma), they cause complications that do not retaliate to medications and problems become severe when they are formed during pregnancy. VHL gives rise to conditions like endolymphatic sac tumor, renal cell carcinoma, angiomatosis and specifically in women, broadening of the ligament of the uterus.

    Symptoms: Symptoms of VHL include Problems with walking and balance, Headaches, Dizziness, Vision problems, High blood pressure, Weakness felt in the limbs and Cardiovascular diseases along with heart attacks and strokes.

    Treatment: The genes that are mutated due to VHL cannot be restored to its original form. The treatments can just delay and decrease the symptoms and heighten the standard of life but cannot cure the disease entirely. Conditions like CNS hemangioblastoma, retinal angiomas, pheochromocytomas and clear-cell renal carcinomas are screened regularly. On being symptomatic, CNS hemangioblastomas are removed surgically. Treatments like Cryotherapy and Photocoagulation are used to treat symbolic retinal angiomas. Partial Nephrectomy and radiofrequency ablation are used to treat renal tumors

  5. Kuru

    It is a fatal and rare disease related to the nervous system. It was mostly seen during 1950s-1960s in the people of New Guinea. This disease was contracted due to cannibalism performed on the dead bodies along with other funeral rituals that were traditional. The word “Kuru” means “to tremble in fear”. Coordination problems and twitching are some of the symptoms of Kuru. Problems related to involuntary movements, walking, behavioral changes and mood changes are some of the other symptoms. Kuru later can malnutrition. It is not known to have a cure. It kills the one affected, within a year’s time. Kuru had helped the scientists to study and research about many other diseases. Kuru is considered to be the first of its kind. It is a neurodegenerative disease that results from any of the infectious agents. It helped the formation of a new group of diseases that include Gerstmann-Sträussler-Scheinker disease, Creutzfeldt-Jakob disease and a fatal syndrome of familial insomnia.

    Symptoms: The symptoms of disorders like stroke or Parkinson’s disease that mostly regular neurological disorders are similar to the symptoms of Kuru. These include Poor coordination, Difficulty swallowing, Difficulty walking, Slurred speech, Muscle tremors and twitching, Dementia, Changes in mood and behavior, Compulsive and random crying or laughing and Incapability of grabbing objects.

    Treatment: No effective treatment has been yet discovered for curing Kuru. The causative agent Prions can be easily subjected to destruction. However, prions that infect the brain remain like that and cannot be destroyed. They still remain infectious when the brain is preserved for years in formaldehyde.

  6. Neuronal Ceroid Lipofuscinosis (NCL)

    This condition talks about a collection of conditions which affects the neurological system. The symptoms vary differently in different forms of this disorder. These include dementia, epilepsy and vision loss. This disease can be classified depending on the clinical symptoms and the age of inception. Recent studies have classified the diseases based on the underlying problem of genes. Most forms of NCL are devised in an autosomal recessive manner. Autosomal inheritance in its dominant form can be mostly found in adults, which is called neuronal ceroid lipofuscinosis 4B. Treatment options and therapies are limited and can only ease the symptoms.

    Symptoms: This disease has disorders that include Progressive and sometimes permanent loss of psychological ability and motor skills along with the accumulation of lipofuscins in the intracellular spaces. Early onset of NCL results in conditions of seizures, blindness and lipofuscin accumulation. Retinal blindness takes place by 2 years of age. At 3 years the vegetative condition is reached and by 4 years the infant dies due to isoelectric encephalograms. Any variation takes place between 2 to 4 years, the symptoms being, deterioration of vision and seizures. The maximum age that the infant can reach before dying is between 10 to 12 years. Batten disease, Juvenile NCL or Spielmeyer-Vogt between the ages of 4 to 10 years suffer from seizures, psychological degeneration and retinal dystrophy causing vision loss which eventually leads to death by the age of 20 or at the most, the late 30s. In adults diseases like Kuf’s disease and ANCL the symptoms are less understood and manifest with milder signs. These symptoms peculiarly appear at the age of 30 and finally give in to death within 10 years.

    Treatment: This is a rare genetic disease and making a diagnosis of such a kind of disease is pretty challenging. The medical practitioners primarily look at the physical exam, the medical history, the symptoms and other laboratory tests before finally assessing the gravity of the disease and giving any verdict. It is very rare that an individual with NCL will live for long.

  7. Paraneoplastic Pemphigus (PNP)

    There are a lot of forms of pemphigus, but paraneoplastic pemphigus is the rarest and is most dangerous among all of them. PNP is an autoimmune disease which is rare in nature and causes blisters. The structural component of the epidermis keratinocytes, distance from each other and leave gaps in between. Many a time these gaps get filled with the fluid that eventually peels off. Therefore, the skin is left open and raw and thus becomes susceptible to infection. The blisters are mostly formed on the lips, throat and any other random areas on the skin. This disease is excessively fatal. Around 90% of the people infected with this disease end up dying due to cancer, multi-organ failure and sepsis.

    Symptoms: the presence of lesions takes place in all of the patients who are diagnosed with paraneoplastic pemphigus. But, there are differences present in the types of lesions. There are 5 clinical arrangements that show the 5 different lesions relation with PNP. “Graft-vs.-host disease-like” is one kind that has lichenoid eruption spread all over the body and there are dangerous mucous membrane lesions. The second type is the “Lichen planus-like” whose symptoms are reddish scaly papules that are flattened from the top and are small in size. The third type is “Pemphigus-like”, those are flaccid blisters, and these grow over the opened and raw skin lesions. The fourth type is, “Erythema multiforme-like”, these are mucous membrane lesions or dangerous polymorphic skin. Lastly, "Pemphigoid-like", these look like tense blisters which are situated on the brick red colored erythema.

    Treatment: the primary treatment is curing the infections that an individual may have contracted due to the open and broken skin. The wounds that are already there need to be treated with a dressing that does not stick to the skin, warm compresses and antibiotic ointment. Immunosuppressive agents are responsible for decreasing the blisters, but sometimes they are not effective enough. For preventing malignancy the patients are advised to maintain a high degree of caution. Here the immunosuppression is essential and leads the treatment options. If the primary steps taken to control the spread of PNP are not effective enough, the condition tends to deteriorate. Therefore, more aggressive measures require being taken in that case.

  8. Fibrodysplasia Ossificans Progressiva (FOP)

    Fibrodysplasia ossificans progressiva (FOP) is the disorder where the connective tissue and muscle tissue like the ligaments and tendons that are slowly replaced by the ossified bones. It causes the bones to form outside the skeletal structure which restricts movement. The process usually comes to the notice early in the childhood. It begins with the bones of the neck and then moves onto the shoulders and finally proceeding downwards in the body and in the limbs. The excess bones those are formed outside the skeletal system results in loss in mobility because the joints are affected. Over time the patients suffer from malnutrition because of the eating problems. People also face breathing issues due to the extra bones that are formed around the rib cage.

    Symptoms: This disease has symptoms like big deformed toes, a joint missing here and there and a visible lump in minor joints. Ossification is seen in axial, proximal, cranial and dorsal regions and later in appendicular, ventral, distal and caudal areas in the body. The lumps in the joints affect the mobility of the people, it further affects other parts. The patient is unable to open their mouth for speaking and eating. Extra bones form near the rib cage restricting the expansion diaphragm and lungs which results in complications in breathing. The disease is pretty rare and the symptoms are sometimes misdiagnosed for fibrosis or cancer. Therefore, the physicians tend to carry out a biopsy and can increase the growth of the lumps in the joints. The thumbs along with the toes are malformed which help to indicate the existence of the disease and distinguish it from other forms of skeletal problems. The patients more or less survive till the age of 40 under proper treatment. If the situation goes undiagnosed then it may lead to trauma, infections a further decrease in years of life.

    Treatment: There are no treatments that are approved yet. Doctors try to surgically remove the malfunctioning bones so that they cannot cause damage to anything else. Under the condition of anesthesia patients may experience restrictive pulmonary disease, intubation and other changes in the system of the heart that conducts electricity. Undertakings that heighten the chances of causing injury to the soft tissue or the risk of falling, should be neglected because the most lenient trauma can trigger heterotopic bone formation.

  9. Morgellons

    Morgellons disease is a disorder that causes delusions. It makes the patient believe that there are parasites or other foreign bodies are moving in and out of the body. This is a rarely-known disorder which is sometimes linked to nonspecific nerve, skin as well as psychiatric symptoms. Many consider this as the fiber disease. Patients with this disease also are patients with hypothyroidism. It mostly affects the Caucasian females belonging to the age group of 35 to 50 years.

    Symptoms: People suffering from Morgellons disease frequently complain of a burning sensation, itchy skin, depression, use of tobacco, difficulty in thinking clearly, irritability of the skin as if something is crawling beneath it and chronic fatigue.

    Treatment: No specific treatment has been discovered for completely curing this disease. Individuals suffering from Morgellons disease do benefit to an extent from medications used for treating tics or psychosis, like pimozide, olanzapine, zydis or zyprexa.

  10. Nuclear Factor Kappa B Essential Modulator (NEMO)

    Nuclear factor kappa B essential modulator (NEMO) is rare and is affects only males. The disease is extremely rare and affects the immunity system. Nobody knew about it until 2007, such a rare disease it is. This disease causes delayed tooth development and a lot of other problems related to hair growth. Also, repeated infections, compromised skin, conically shaped tooth, ocular trouble and abnormal growth of bone are a part of the disease. The only treatment found for this is the bone-marrow transplant.

    Symptoms: Children suffering from NEMO have a skin issue, which is known as ectodermal dysplasia. In this condition, the outermost covering layers of the skin do not form properly. These children have skin that is thickened with a few or zero sweat glands along with teeth formed abnormally and thin hair. Even the immune system is affected by NEMO syndrome. The cells that are affected include neutrophils, macrophage, T lymphocytes and B lymphocytes. Due to this, the body becomes even more gullible to infections, especially caused by Staphylococcus Aureus, Pneumococcus as well as mycobacteria (that resembles tuberculosis). This infection can affect the entire body, meningitis, in this case, in childhood and can be a primary indicator of the immunodeficiency disease. The body becomes unable to fight the infections. The body develops an ‘autoimmune response’ and therefore, attacks the body cells considering them foreign cells such as viruses and bacteria. This may eventually give rise to gut problems like abdominal pain and diarrhea.

    Treatment: Treatment of NEMO aims at preventing the infections so that the children begin the immunoglobulin treatment. Immunoglobulin is as well-known as an antibody. People incapable of making antibodies on their own are injected with this so that they can work as a replacement. Along with immunoglobulin treatment, the children also need to consume antifungal medicines or antibiotics or any other medicine for promptly curing the infections. Check-ups and monitoring on a regular basis are absolutely crucial and also helps to detect the infections at the right time. The autoimmune response can be controlled with help of medications.

Also Read:

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: May 14, 2018

This article does not provide medical advice. See disclaimer

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