Overview Hereditary Motor Sensory Neuropathy also known as Charcot Marie Tooth Disease or CMT with pyramidal features is a motor and sensory peripheral nerve disorder which is inherited and progressive in nature. It is a group of disorders characterized by a chronic motor and sensory polyneuropathy with demyelination and axonal degeneration. The two common forms of HMSN are either Hypertrophic…
Overview In glanzmann thrombasthenia (glanzmann disease), there is a failure of primary platelet aggregation with ADP or collagen due to inherited deficiency of, two of platelet membrane glycoprotein’s. In this disease there is no fibrinogen bridging occurs between platelets, as a result, bleeding time is significantly prolonged. In other words this disorder is condition in which blood doesn’t clot properly….
When the body starts excreting too much protein in your urine it leads to kidney disorder which is known as a Nephrotic syndrome .Nephrotic syndrome is due to the damage to the clusters of small blood vessels in your kidneys which filters waste and excess water from your blood. This can also result in swelling (edema), particularly in your feet…
Overview Neurofibromatosis or von Recklinghausen’s disease may be defined as the condition that is characterized by multiple neuro-fibromas and pigmented skin spots (cafe au lait spots). Three main conditions are responsible for causing tumour growth in the nervous system. Neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis are the major three types. These patients have the family history consistent with…
An injury to your autonomic nervous system (ANS) is often referred to as Harlequin syndrome. ANS has the regulatory control over your natural processes like sweating, pupil response and skin flushing. A defective regulation by ANS (dysfunctional ANS) leads to asymmetric flushing and sweating. It is mainly manifested over your face, neck and upper thoracic region of chest. One can…
Introduction Trimethylaminuria or commonly known as Fish Syndrome is a metabolic disorder which is inherited and it creates a nasty, offensive body odor which resembles a rotting fish. This happens when a protein called trimethylamine (TMA) in our urine, sweat and breath gets excreted in excess. It is also known as fish malodor syndrome. This happens due to the lack…
Takayasu arteritis (TA) is a perplexing large vessel vasculitis that had been recognised for more than 200 years but continues to be a big therapeutic challenge for the physicians. It is a rare type of vasculitis, that causes vessel inflammation. In refractory Takayasu arteritis, the inflammation damages the large artery that carries blood from the heart to the rest of…
Introduction It is an inherited disease which is autosomal recessive. It damages the nervous system which is progressive. Initially it disturbs the gait coordination. It then leads to scoliosis,various heart disease and diabetes. It really does not affect the person’s cognitive function. The disease occurs slowly and becomes progressive. It sometimes leads to immobility. This happens due to genetic mutation…
Goodpasture Syndrome is a rare disorder but considered as a serious disorder that affects lungs as well as kidneys. It occurs when immune system of the person mistakenly produces antibodies against collagen (protein that helps to form the connective tissue) in the kidneys and lungs. It mostly affects young men. It can affect the people in the age group of…