Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis. Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a persons nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration. Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of … Continue reading →

Jennifer Simpson remembers the telepathic feeling she had two years ago. She was at home in South Glens Falls with her son, Christopher, when she got an overwhelming sense her husband needed her. She told her son to hop in the car and they sped to the mall, where she knew her husband, Ben, was Christmas shopping. When she located him, she ran over, horrified. Ben was staggering through the food court, bracing himself against the wall. People thought he was drunk. Everybody was like staring at him going, Whats wrong with this dude? she recalled. Ben told Jennifer his right leg wouldnt do what his brain told it to. That episode was the first in what would become a devastating downward spiral in his health. Ben has been diagnosed with progressive cerebellar ataxia, a neurological disorder that causes damage or degeneration of the cells in the part of the brain that controls muscle coordination. The deterioration has been swift. In 24 months, the 31-year-old man who once had a passion for martial arts and hiked with his family now weighs under 100 pounds and lies bedridden at The Pines at Glens Falls Nursing & Rehabilitation Center. Bens mind remains … Continue reading →

What is a genetic disease? A genetic disease is any disease that is caused by an abnormality in an individual's genome. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations occur either randomly or due to some environmental exposure. There are a number of different types of genetic inheritance, including the following four modes: Single gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single age). Some examples of monogenetic disorders include: Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked. Genetic Disease - Symptoms Question: What were … Continue reading →