Top 10 less known Rare Diseases

by Marc De Laria
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Top 10 less known Rare Diseases

A disease is an abnormal and pathological condition that affects either a part or a whole organism. Although diseases have specific symptoms and signs for easier detectability, most diseases, and more often, rare diseases go by undetectable even for some doctors. Causes of certain diseases can vary from external or internal conditions or dysfunctions. Diseases are categorized in four main types, namely: pathogenic, deficiency, hereditary and physiological diseases. Diseases can also be classified as communicable and non-communicable. Diseases like HIV and cancer have sadly become a household name. Although not any less painful, there are many more diseases out there that most people don’t know about. Rare diseases can come out of nowhere and can happen to anyone. It can simply be from a virus or a genetic disorder. Regardless of the type of disease, they’re still an uncomfortable issue to talk about and no fun at all. Here’s a roundup of the top ten rare diseases that you might never even heard of. Some are so intense that you’d probably never wish you’d seen them in the first place.

10. Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA)More commonly referred to as SMA, Spinal Muscular Atrophy is an autosomal recessive disease caused by a genetic defect in the SMN1 gene. They usually attack the muscles of the lower extremities, followed by the upper extremities, spine and neck. More severe cases include the pulmonary and mastication muscles. Proximal muscles are always affected earlier and to a greater degree than distal. SMA manifests in different degrees of severity, but all have general muscle wasting and mobility impairment in common. Other bodily systems may be affected, principally in early-onset forms. SMA is the most common genetic cause of infant death.

9. Cyclic Vomiting Syndrome (CVS)

Cyclic Vomiting Syndrome (CVS)Initially thought to affect only children, Cyclic Vomiting Syndrome or CVS can occur in any age group. It is characterized by episodes of severe vomiting with no apparent cause. These episodes can last for hours or days with alternative symptom-free periods of time. Hence, there’s no way to predict when an episode will again occur. However, episodes normally start at the same time of the day, with the same length of time, with similar symptoms and level of intensity. CVS affects almost 2% of school age children, with the number of diagnosed cases in adults increasing. Because vomiting is a symptom of many illnesses and disorders, CVS is not easily diagnosed in individuals. Cases can be so severe as to having to stay in bed for days and may be related to migraines.

8. Alpha 1-Antitrypsin Deficiency (A1AD)

Alpha 1-Antitrypsin Deficiency (A1AD)A1AD is a genetic disorder that causes defective production of Alpha 1-Antitrypsin, which leads to decreased A1AT activity in the blood and lungs, as well as the deposition of excessive abnormal A1AT protein in liver cells. Like the previous diseases in this list, A1AD has several forms and degrees of deficiency or intensity levels, but what differs here is that the degree of deficiency is dependent on whether the individual has one or two copies of the affected gene, simply because it is a codominant trait. Severe deficiency of A1AT can cause panacinar emphysema or COPD in adult life with people who carry the condition.

7. Landau-Kleffner Syndrome

Landau-Kleffner SyndromeLandau-Kleffner Syndrome of LKS is also called infantile acquired aphasia, acquired epileptic aphasis or aphasia with convulsive disorder. It is a rare childhood neurological syndrome. The disease was named after William Landau and Frank Kleffner who characterized it through the diagnosis of six children. The disease is characterized by sudden or gradual development of the inability to understand or express language and an abnormal electroencephalogram or EEG. LKS affects part of the brain that affects comprehension and speech, and usually occurs in children between the age of three and seven. The disease appears to have a slight male dominance in diagnosis, with a ratio of 1.7:1, men to women.

6. Tardive Dyskinesia

Tardive DyskinesiaTardive dyskinesia is a difficult to treat and often an incurable form of dyskinesia. Dyskinesia, on the other hand, is a disorder resulting in involuntary, repetitive body movements. This form of dyskinesia, however, the movements have a slow or belated onset, hence the word tardive. The neurological disorder most commonly occurs as a result of a long term or high dose of antipsychotic drugs, or in children and infants as a side effect from usage of drugs for gastrointestinal disorders. His involuntary and purposeless movements include grimacing, tongue movements, lip smacking, lip puckering, lip pursing and excessive eye blinking.

5. NeuromyelitisOptica (Devic’s disease)

NeuromyelitisOptica (Devic’s disease)More commonly known as Devic’s disease, NeuromyelitisOptica is a heterogeneous condition that consists of recurrent and simultaneous inflammation and demyelination of the optic nerve and the spinal cord. More simply, it attacks the central nervous system that affects the optic nerves and spinal cord. Spinal cord lesions lead to different degrees of weakness or paralysis in the legs or arms, loss of sensation, including blindness, and/or bladder and bowel dysfunction. NMO, as it’s also called, leads to the loss of myelin, a fatty substance that surrounds nerve fibers and helps nerve signals move from cell to cell. The disease can also damage nerve fibers and leave areas of broken down tissue. Immune system cells and antibodies attack and destroy myelin cells of the optic nerves and spinal cord – the reason for this are still unclear.

4. Familial Idiopathic Basal Ganglia Calcifications (Fahr’s Disease)

Familial Idiopathic Basal Ganglia Calcifications (Fahr’s Disease)Commonly known as Fahr’s Disease, the Familial Idiopathic Basal Ganglia Calcification is a genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Calcifications are mainly seen in the basal ganglia and other areas like the cerebral cortex through CT scans. Symptoms include deterioration of motor function, dementia, seizures, headaches, dysarthria, spasticity and spastic paralysis, eye impairments and athetosis. Fahr’s Disease symptoms also include those similar to symptoms of Parkinson’s disease like tremors, muscle rigidity, among others. As of the moment, there is no cure or treatment for Fabry’s Disease, there are only treatments to cure the symptoms on an individual basis.

3. Dercum’s Disease

Dercum’s DiseaseDecrum’s disease is also known as Adiposis dolorosa. It is a condition characterized by multiple and painful lipomas. The lipomas primarily occur in the trunk, upper arms and upper legs. The cause and mechanism of Decrum’s disease is so rare that these are still unknown. Possible etiologies include nervous system dysfunction, mechanical pressure on nerves, adipose tissue dysfunction and trauma. The disease was named after the American doctor Francis Xavier Decrum, who originally described the disease in medical literature back in 1892. The disease commonly appears between the ages of 35 to 50 and is five to thirty times more common in women than in men.

2. Paraneoplastic Neurologic Syndromes (PNS)

Paraneoplastic Neurologic Syndromes (PNS)Paraneoplastic Neurologic Syndromes or PNS is the consequence of cancer in the body but instead of the mass effect, it is not caused by the local presence of cancer cells. The disorder is triggered by an abnormal immune system response to a cancerous tumor known as a neoplasm. This syndrome is thought to occur when cancer fighting antibodies or white blood cells mistakenly attack normal cells in the nervous system. Typically, PNS attacks individuals that are middle aged to older ages. They are more common in individuals that have lung, ovarian, lymphatic or breast cancer. Neurologic symptoms generally develop over a period of days to week, usually occurring prior to the discovery of the tumor.

1. Progressive Multifocal Leukoencephalopathy (PML)

Progressive Multifocal Leukoencephalopathy (PML)Also known as Progressive Multifocal Leukoencephalitis, PML is a usually fatal viral disease characterized by progressive damage or inflammation of the white matter of the brain at multiple locations. It occurs almost wholly in individuals with severe immune deficiency, including transplant patients on immunosuppressive medications, those receiving certain kinds of chemotherapy, receiving natalizumab for multiple sclerosis, on long term efalizumab for psoriasis, brentuximab for Hodgkin’s Lymphoma or those with AIDS. PML is caused by the JC virus, which is normally present and kept under control by the immune system. The immunosuppressive drugs prevent the immune system from controlling the virus.

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