Tay-Sachs disease is a rare genetic disorder characterized by progressive degeneration of nerve cells in the brain and spinal cord. The signs and symptoms vary depending on the age of onset and type of disease. There are three main forms of Tay-Sachs disease: acute infantile, juvenile and adult-onset. 1. Acute infantile form This is the [...]
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Niemann-Pick disease is an inherited genetic disorder characterized by abnormal lipid metabolism, resulting in the accumulation of fats in various organs, particularly the liver, spleen, brain and bone marrow. The signs and symptoms vary in severity depending on the genetic mutation and type of disease. There are four main types of Niemann-Pick disease: Type A, [...]
Glycogen storage disease type Ia (GSDIa) is a genetic disorder characterized by accumulation of glycogen in organs and tissues, impairing their normal function. This can lead to organ damage and other complications if left untreated. There are two types glycogen storage disease: GSDIa and GSDIb. GSDIa and GSDIb are caused by different mutations and have [...]
Mucolipidosis type IV is an inherited metabolic disorder characterized by developmental delay and impaired vision. There are two forms of Mucolipidosis type IV, categorized by the severity of signs and symptoms: 1. Typical mucolipidosis type IV This form is more severe and more commonly observed among people of Ashkenazi Jewish descent. The age of onset [...]
Gaucher disease is a rare metabolic disorder characterized by accumulation of lipids in organs and bones. The signs and symptoms can vary in severity and age of onset depending on the type of disorder, ranging from asymptomatic to severe, infancy to adulthood. Gaucher disease has been categorized clinically into three general types: Non-neuronopathic (central nervous [...]
Fanconi anemia is an inherited genetic disorder characterized by bone marrow failure, congenital abnormalities and increased risk of cancer. Common signs and symptoms of Fanconi anemia include lower than normal levels of white blood cells, red blood cells and platelet, leading to frequent infections, fatigue due to inadequate oxygen and inability to clot normally. Some [...]
Familial dysautonomia is a progressive neurodegenerative disorder characterized by disrupted development and maintenance of nerve cells in the autonomic nervous system. It can lead to pulmonary complications and sudden death if left untreated. Common symptoms arise from problems with controlling involuntary actions such as difficulties in digestion, inability to produce tears, poor regulation of body [...]
Maple syrup urine disease (MSUD) is an inherited metabolic disorder characterized by acidosis and sweet odor in the urine. Acidosis refers to excessive acid in bloodstream, resulting from inability to break down certain amino acids properly in the body. The signs and symptoms of this disorder include poor appetite, irritability, lethargy (lack of energy), developmental [...]
Canavan disease is a neurodegenerative disorder characterized by progressive nerve cell damage in the brain. The severity of the disorder can vary, ranging from mild developmental delay to intellectual disability and lack of motor development. There are two forms of Canavan disease categorized by the severity and age of onset: 1. Neonatal/infantile form This is [...]
Bloom syndrome is a rare genetic disorder characterized by growth retardation, sunlight sensitivity and a weaker immune system. Common symptoms include short stature, skin rashes upon sun exposure, high-pitched voice and distinct facial features (long and narrow face, prominent nose and ears, small jaw). People with Bloom syndrome have moderately compromised immune system, leading to [...]