Rubinstein-Taybi Syndrome click here (RTS) is a rare neurological disorder of the central nervous system and skeletal system characterized biometrically and medically as an extremely long lasting spontaneous movement disorder, where muscle tone is unusually exaggerated in normal people with normal intelligence. It is believed to be a heritable condition, although not all researchers agree. Although the exact genetic cause is unknown, the condition is known to run in families, but not with certainty. The syndrome was named after the German neurologist and medical researcher Dr. Paul Rubinstein, who made his first discovery of RSTS in the 1940s. He died shortly afterward from lung cancer, and his work on RSTS is still ongoing.
RTS has many distinguishing characteristics which make it different from the similar conditions called kinesiopathies and entechnias. The symptoms include muscular weakness or rigidity in the limbs, a slow or absent response to touch, unusual spasticity of muscles in the legs, lack of coordination between limbs, and in most cases, motor weakness and coordination in one or more limbs, including both upper and lower extremities.
Rubinstein-Taybi Syndrome can have a dramatic effect on a person’s quality of life, causing marked and unexplained discomfort. Although the exact causes of the condition are not yet completely understood, scientists have been able to identify some possible risk factors that are associated with increased risk for RTS. These include genetic predisposition, injury to the spine, brain tumor, or brain injury. RTS is thought to be inherited in an autosomal recessive gene, which means that both parents must carry the gene for the condition to be passed on.
Rubinstein-Taybi Syndrome is also linked to a family history of the syndrome in one or both parents. The condition is generally seen in males, although women are believed to have a slightly higher risk of developing it.
MRI scans have shown that RSTS is caused by degenerative damage to neurons in the cerebrum. Neurons in the cerebrum regulate the transmission of information between the brain’s motor neurons that send impulses to muscles, allowing the muscles to contract and relax. Neurons also produce neurotransmitters such as acetylcholine (muscle signals) and dopamine (brain chemical mediator). In Parkinson’s disease, there are lesions in the motor cells that produce dopamine which affect the transmission of information between motor neurons and inhibit the contraction of muscles.
Rubinstein-Taybi Syndrome is classified into five categories: Congenital Rubinstein-Gottlieb’s Disease (CRG), Rubinstein-Gottlieb’s Disease due to autosomal dominant inheritance, syndromes due to de novo mutations in genes that produce Rubinstein-Gottlieb’s Disease proteins, neurogenic syndromes, neurodegenerative disorders caused by proteinopathies and neurocardiogenic disorders. Treatment of each category is highly individualized.