Essay On Spinocerebellar Ataxia

According to the Muscular Dystrophy Association of New Zealand Inc., spinocerebellar ataxia is described as “...a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.” This is similar to other muscular dystrophy disorders such as motor neurone disease or in other words ALS because it is a progressive disease and ataxia relates to the cerebellum in the brain. Ataxia is the degeneration of the cells within the cerebellum part of the brain. According to Genetic Home Reference, this disease affects, “1 to 2 per 100,000 people worldwide.” This is a considerable amount of people given how many people are living in the world today but at the same time there aren’t a lot of people that are affected by this genetic disease.
After the symptoms first appear, a person has a life expectancy of around 10 to 20 years.
We do have to take into account, with the life expectancy, that there are various types of this disease. The life expectancy mentioned above is in reference to spinocerebellar ataxia type 1. The symptoms for spinocerebellar ataxia type 1 are as follows according to Genetic Home Reference. “Over time individuals may develop numbness, tingling, or pain in the arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); muscle wasting (atrophy); and muscle twitches (fasciculations). Rarely, rigidity, tremors, and involuntary jerky movements (chorea) have been reported in people who have been affected for many years.” There are also some other symptoms such as, a hard time speaking or swallowing, muscle stiffness, weakened eye movement which can lead to involuntary eye movement, and they also have a hard time learning and remembering. All of these symptoms can be linked to the degeneration of the
cerebellum. The cerebellum receives sensory signals and helps with movement and coordination. So it is a very major and vital part of brain because it helps people with day-to-day activities such as walking or looking around. The symptoms of spinocerebellar ataxia, in general, are the degradation of our senses and muscle coordination and movement. According to Disabled World, when it comes to the genetic part of this disease it states, “There are a number of gene mutations in different chromosomes that cause SCA...” or spinocerebellar ataxia “SCA does not differentiate between genders; as with nearly every autosomal dominant disorder, both females and males are equally likely to inherit a defective gene.” It is a dominant gene mutation that causes all types of spinocerebellar ataxia. In type 1, adenine, guanine, and cytosine in DNA are repeated from about 40 to 80 times which is a big difference compared to the normal amount of times which is 4 to 39 times. The number of times it is repeated is determine when the symptoms start to first show up. The increase in proteins causes cell death which occurs in the cerebellum. It is mentioned is mentioned that this disease is an autosomal dominant disorder which means that only one of the mutant genes needs to show up in offspring for this disease to show up in offspring. This disease is passed down from generation to generation; it doesn’t skip although it has been known to occur. There isn’t a cure for this disease and it is also progressive meaning it gets worse over time. Treatments are to lessen symptoms not to get rid of them. A person with spinocerebellar ataxia will eventually have to use a wheelchair and need assistance with everyday tasks.