Diseases and Conditions

Multiple System Atrophy (Shy–Drager Syndrome)

What is Multiple System Atrophy? Multiple System Atrophy (MSA) is a type of degenerative neurological disorder. It is associated with degeneration of the nerve cells in certain specific areas of the brain. This characteristic cell- degeneration leads to problems with balance, movement as well as other autonomic processes... 

Osteitis Deformans (Osteodystrophia Deformans)

What is Osteitis Deformans? Osteitis Deformans is a type of chronic disorder in which the normal process of bone recycling is affected. Bone recycling is a method by which the old bone tissues are slowly and gradually replaced by new bone tissues. However, in an individual with this condition, this does not happen in a... 

Sandhoff Disease

What is Sandhoff Disease? Sandhoff Disease is a lysosomal, hereditary, lipid storage disorder that is caused by an inherited deficiency to produce the functional beta-hexosaminidases A and B.  

Essential Hypertension

What is Essential Hypertension? It is a type of hypertension without any identifiable cause. The most commonly occurring variant of hypertension, it occurs in 95% of all hypertensive patients. The condition usually tends to be familial or genetic in nature, and is most likely caused by a combination of environmental and hereditary... 

Schwannomatosis

What is Schwannomatosis? It is a health condition characterized by the onset of numerous benign tumors or schwannomas that develop from the cells that are associated with the nerves making up the peripheral nervous system. These cells are called Schwann cells and they surround majority of nerve cells in the body of an individual.... 

Renal Agenesis

What is Renal Agenesis? Renal Agenesis is a congenital medical condition characterized by the failure of development of one or both of the fetal kidneys.  

Cowden Syndrome

What is Cowden Syndrome? It is a genetic condition which can be passed to an individual from their parents. It causes excess growth of multiple types of benign tissue and is known as hamartomas. The most prominent feature of Cowden Syndrome is the development of small flesh colored bumps on the skin that involves a hair follicle... 

Delayed Sleep Phase Syndrome

Delayed Sleep Phase Syndrome Definition Delayed Sleep Phase Syndrome (DSPS) is a form of circadian rhythm sleep disorder characterized by a change in the timing of sleep, the body temperature rhythm, hormonal rhythms as well as other daily rhythms and the peak alertness period. The sleep pattern of individuals affected with... 

Third Nerve Palsy (Oculomotor Nerve Palsy)

What is Third Nerve Palsy? Third Nerve Palsy (TNP), or Oculomotor Nerve Palsy, is a condition of the eye that results from damage of the third cranial nerve and/or a branch thereof. The oculomotor nerve is connected to most of the muscles that control eye movements. Hence, any damage to this particular nerve makes it difficult... 

Ocular Melanoma

What is Ocular Melanoma? Ocular Melanoma (OM) can be defined as a melanoma that affects the eye. It is a cancerous condition that develops from the cells known as melanocytes. The melanocytes produce a dark pigment called the melanin which gives our skin its characteristic color. These cells can be found in various places within... 

Orthostatic intolerance

What is Orthostatic Intolerance? Orthostatic Intolerance (OI) is a condition in which the symptoms arising due to an upright standing posture is relieved by recumbency as well as when sitting back down once more. Various types of Orthostatic Intolerance exist.  

Renal Osteodystrophy

Renal Osteodystrophy Definition Renal osteodystrophy is a disorder of the bones; a bone pathology that is characterized by the deficiency of bone mineralization. It is directly caused by the endocrine and electrolyte derangements occurring as a result of chronic kidney disease. The condition is also referred to as chronic kidney... 

Refsum Disease

What is Refsum Disease? Refsum Disease is a type of hereditary neurological disorder that is inherited in an autosomal recessive pattern. It is characterized by an over-accumulation of the phytanic acid in the cells and tissues. Refsum Disease is among the several disorders that are named after Sigvald Bernhard Refsum, the Norwegian... 

Pityriasis Rubra Pilaris

What is Pityriasis Rubra Pilaris? Pityriasis Rubra Pilaris (PRP) is used to describe a cluster of chronic conditions that are characterized by the presence of reddish-orange, scaling plaques as well as keratotic follicular papules. These disorders have a varied mode and rate of progression as well as a varying rate of improvement.  

Long QT Syndrome

What is Long QT Syndrome? Long QT Syndrome (LQTS) is a very rare inborn condition of the heart that is characterized by fast, chaotic heartbeats. In it, delayed repolarization of heart after a single heartbeat increases the risk of TDP or torsades de pointes. Torsades de pointes is an irregular form of heartbeat that has its... 

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