Genetic disorders may be inherited or develop from spontaneous mutations. Although treatments are improving, there are no cures for neurocutaneous disorders.
13-Year-Old Teen With Rare Genetic Disorder Dies After Waiting For Multi-Organ Transplant
The teen suffered from a disease that pushed him to the need for multi-organ transplant, where he required pancreas, intestine, small bowel, kidneys and liver.
The teen suffered from a disease that pushed him to the need for multi-organ transplant, where he required pancreas, intestine, small bowel, kidneys and liver.
‘Neurofibromatosis causes brown spots on the skin and benign tumours on the brain, spinal cord and other parts of the nervous system.’
Neurocutaneous disorders are caused by abnormal development of cells in the embryonic stage, leading to tumours in various parts of the body. Disorders may be inherited or develop from spontaneous mutations. Although treatments are improving, there are no cures for neurocutaneous disorders. Neurofibromatosis patients "are best managed by a multidisciplinary team of specialists aiming to maximise healthy growth and development and to treat complications as early as possible", wrote Anna Carolina Paiva Costa T. Figueiredo, Nikolas Mata-Machado, Matthew McCoyd, and Jose Biller.
Among the other more common neurocutaneous disorders are tuberous sclerosis complex, which affects about 1 in 5,8000 newborns and Sturge-Weber syndrome, which affects between 1 in 20,000 and 1 in 50,000 newborns. The report appeared in the journal Current Neurology and Neuroscience Reports.
Euthanize My 6 Children Suffering from a Rare Genetic Disorder: Father to Indian Prez
Canavan is a neurological disease wherein the growth of children is developmentally delayed and over time, the patient suffers seizures and becomes paralyzed.
Canavan is a neurological disease wherein the growth of children is developmentally delayed and over time, the patient suffers seizures and becomes paralyzed.
Most People Carry Recessive Disease Mutations That can Cause Severe Genetic Disorders
DNA sequence variants are harmless when a person carries only one copy, but can cause severe genetic disorders or prenatal death when two copies are inherited.
DNA sequence variants are harmless when a person carries only one copy, but can cause severe genetic disorders or prenatal death when two copies are inherited.
Learning Disabilities Due to Genetic Disorder Reversed by Statins
Learning deficits caused by a mutation linked to a common genetic cause of learning disabilities could be reversed with statins, a popular class of cholesterol drugs.
Learning deficits caused by a mutation linked to a common genetic cause of learning disabilities could be reversed with statins, a popular class of cholesterol drugs.
