Spinocerebellar ataxia or SCA can be defined as a group of conditions that has its influence on the brain as well as the spinal cord and leads to hindered coordination. SCA is reference to the body parts that is affected during the affliction of the condition. Sipno is a term used to refer to spinal cord whereas cerebellar is the lower- back portion of the brain.
The cerebellum is that portion of the brain which is responsible for controlling and coordinating physical movements. People suffering form SCA may usually have atrophied cerebellum (smaller cerebellum). The symptoms of such disease are usually experienced during 30s or 40s; however, the beginning is irrespective of age. In many cases the onset of the disease is recorded during the childhood which persists as long as to 70s.
There are 13 different kinds of SCA diseases described by the year 2001. The categorization of the disease is done through numbers from 1 to 14.Each of these described conditions is caused due to some kind of mutation in the disease. However, in case of SCA9 there is no description and neither any defective gene is found. SCA is also referred to as Olivopotocerebellar atrophy and sometimes as cerebellar degeneration. It is also sometime called as Marie’s ataxia. In the list of types of ataxia SCA 3 is sometimes referred to as Machado- Joseph disease.
Symptoms of Spinocerebellar ataxia
The condition may affect coordination of body parts such as hands, legs and almost all other parts. I may also lead to voluntary movement of eye and hindered speech (slurred speech). Atrophy of cerebellum is also noticed in the patient affected with spinocerebellar ataxia. Muscle movement may also be influenced due to the affliction and unsteady movement is caused. The symptoms of the disease may vary according to the type of the disease in the range of SCA1 to SCA 14 (as recorded in 2001). It may also differ from patient to patient. To your information a SCA affected individual may regain complete mental status but may progressively and gradually lose control on the body and its movement.
Types of spinocerebellar ataxia:
This section will introduce some basic but not all types of SCAs. SCA type 1 was the first ataxia gene which was under dominant inheritance category and was discovered in the year 1993. Subsequently additional genes were named SCA- 2, SCA- 3 and so on as they were sequentially discovered. There are approximately 29 mutated gene discovered till date but not all are medically listed.
Causes of Spinocerebellar ataxia:
The major cause of the disease is known to be genetic factors. This means that the disease is usually caused due to inheritance of defective gene from parents. There are different types of inheritance recorded in case for SCA which may include autosomal dominant inheritance, autosomal recessive inheritance and x-linked inheritance. Each of these inheritance types is explained below.
• Autosomal dominant inheritance type:
Autosomal dominant inheritance types include transmission of defective or mutated gene to the child in the womb. This transmission is done by one of the parent and not both. In such a case, there are approximately 50 percent chances of the disease being carried forward to further offspring. Spinocerebellar ataxia is also used to refer to ADCA which is the abbreviation of Autosomal Dominant Cerebellar Ataxia.
• Autosomal recessive inheritance:
Autosomal recessive inheritance includes transmission of defective or mutated gene to the fetus or child in womb from both the parents. Though the parent who passes the gene may not be affected with the disease but they may serve as the carrier of the defective gene. Under such a scenario the offspring are 50 percent prone to the diseases, whereas, there are 25 percent chances of the offspring being affected by spinocerebellar ataxia. Friedreich Ataxia, E deficiency ataxia, AOA or Ataxia with oculomotor apraxia etc are some kind of autosomal recessive inheritance.
• X- Linked inheritance:
This is one of the rarest kinds of inheritance related to the disease. The x- linked inheritance is gender specific inheritance wherein merely the male gender is affected by the disease and female gender does not suffer from the affliction.
Diagnosis of Spinocerebellar ataxia:
It should be known that this condition may be misdiagnosed easily with other neurological conditions. Treatment techniques may include MRI or magnetic resonance scanning of brain. When SCA has progressed, the cerebellum in the brain appears to be astrophied. There are certain laboratory tests that may also help in determining the type of spinocerebellar ataxia. In some cases the doctor may also try to look in the medical history of the patients as well as the family’s genetic history.
Treatment for spinocerebellar ataxia:
In the medical industry, there is not confirmed cure for SCA or spinocerebellar ataxia. The disease is a progressive physical condition which may maturate and become worse through the course of time. However, some type of SCA may not be sever and have mild symptoms. But the progressing condition caused by the disease may be alleviated through appropriate treatments, which may also help the pati0ent to lead a normal life. This means that the symptoms can be reversed through efficient treatments.
The person afflicted with the disease may need support through wheelchair etc. Spinocerebellar ataxia patients may need assistance of such adaptive devices such as cane, walker, etc, to be independent. There are other devices which may also aid the patient with impaired coordination related to physical movement, to perform regular tasks such as writing, eating etc. For people who suffer from slurred speech due to SCA there are communication devices that may provide some aid.
There are several patients with idiopathic ataxia or genetic spinocerebellar ataxia who may also experience other symptoms as well. Some of these additional symptoms are shudder, stiffness, muscle spasm, sleeping disorder etc; a person may also experience psychological conditions such as depression etc. These symptoms can be treated with medication suitable for SCA patients. The beginning of the symptoms of the disease as well as the duration of spinocerebellar ataxia may fluctuate.
One Liter of Tears
Watch One Liter of Tears, a moving story of a 15 year old girl Aya, who suffers from Spinocerebellar ataxia, a disease that renders her cerebellum so weak that she is unable to read, write and even hold a pen that she would use to write a diary
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