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Rigid spine syndrome is a genetic disorder, primarily caused by mutations in the SEPN1 gene. [7] [8] This gene provides instructions for making a protein called selenoprotein N, which plays a role in muscle function and development. Mutations in the SEPN1 gene can lead to abnormal muscle stiffness and rigidity, as well as other characteristic ...
Two of the genetic disorders that may affect spinal tumors, include Von Hippel-Lindau disease and Neurofibromatosis 2. Von Hippel-Lindau disease is a non-cancerous tumor of blood vessels that occur in the brain, spinal cord, or even tumors in the kidneys. The Neurofibromatosis 2 is a non-cancerous tumor that usually affects the nerves for hearing.
Spinocerebellar ataxia (SCA) is a progressive, degenerative, [1] genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
"The patients all had a rare disease that destroys neurons in the spinal cord (much like polio) due to a genetic disorder from birth," Dr. Peter Konrad, chairman of the Department of Neurosurgery ...
Neurologic signs result from severe angulation of the spine, narrowing of the spinal canal, instability of the spine, and luxation or fracture of the vertebrae. Signs include rear limb weakness or paralysis, urinary or fecal incontinence, and spinal pain. [5] Most cases of hemivertebrae have no or mild symptoms, so treatment is usually ...
Many other disorders can produce the same type of body characteristics as Marfan syndrome. [61] Genetic testing and evaluating other signs and symptoms can help to differentiate these. The following are some of the disorders that can manifest as "marfanoid": [citation needed] Congenital contractural arachnodactyly, also known as Beals–Hecht ...
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]