Spinocerebellar ataxia is an incurable genetic disease. This condition has many different types, though the most common is SCA3. Symptoms may vary between types, but they can all have similar warning signs. This condition is hereditary and caused by gene mutations passed down from parent to child. Many individuals with these mutations are asymptomatic. However, symptoms can present themselves or become worse at any point in life. It can severely affect physical movements. This condition can also impair learning, vision, and many of the body's other functions.
Unfortunately, there is no cure for spinocerebellar ataxia. However, patients have several options for spinocerebellar ataxia treatment. The specific treatments may vary based on the type and symptoms in each patient. Physical therapy for spinocerebellar ataxia is fairly common. Assistive devices may also be used. However, patients must first understand their symptoms and then discuss the best spinocerebellar ataxia treatment for their needs with a doctor.
Coordination And Balance Problems
The first warning signs of spinocerebellar ataxia are often coordination and balance problems. These are hallmark traits of the disease because they are common, regardless of the specific type of this condition. Patients often have trouble walking naturally or appear to others as being clumsy. Turning can be particularly difficult. This is because the cerebellum, the part of the brain where the disease gets its name, is typically affected. It is largely responsible for controlling the body's movements.
Balance problems, even when standing, can happen for many reasons in this condition. Both the severity and reasons for this can differ between the different types. The deterioration of the cerebellum is the main cause in most cases. However, it can also lead to certain conditions, which can serve as secondary causes. Episodic vertigo is one such secondary cause of balance problems. This condition can cause an individual to lose their balance or become dizzy in episodes that may last minutes or hours.
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Abnormal speech can be a serious warning sign of spinocerebellar ataxia. Although this symptom is more common in later stages, speech issues can happen at any time. The signs of speech impairment associated with this can vary widely within the different types of spinocerebellar ataxia. Some individuals may have breathing problems, which can affect the respiration needed to speak and sound natural.
Phonation is the ability to make certain sounds when talking. This is required to sound out most words and letters so that others can hear and understand them. Phonation problems are common in many different types of this condition when speech becomes affected. They are also sometimes one of the first indicators of abnormal speech when it first becomes noticeable. Slurred speech often occurs when the disease has become more severe. When speech symptoms are present, doctors sometimes use them to measure the disease's severity in patients. However, this can depend on the type.
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Vision problems can also be indicators of spinocerebellar ataxia. Patients often have decreased low contrast sensitivity. This is a vision problem that makes it difficult to see things at night or in other low lighting conditions. Stereoacuity, the ability to see dimensional differences or depth of objects, can also be affected. This can make even simple tasks, such as walking up stairs or pouring a glass of water, difficult and confusing.
Double or blurred vision is also a common vision symptom. These vision problems can sometimes be attributable to two common eye movement problems in this condition: nystagmus and distance esophoria. Nystagmus is the random, uncontrolled movement of the eyes. Distance esophoria is when an individual's eyes tend to move inwards when looking at something. In some cases, it can be the first and only symptom. Other symptoms may not be present in some individuals when severe vision problems occur.
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Poor Hand-Eye Coordination
Subtle changes in hand-eye coordination often mark the first stages of spinocerebellar ataxia. As the disease progresses, difficulties with this can become more severe. Poor hand-eye coordination can happen because of vision problems, physical difficulties with movement, cognitive impairment, or a combination of all of these. In most types of this condition, visuospatial memory has been affected. This is an individual's ability to remember things involving the distance of objects or the space between them. This can greatly affect hand-eye coordination when performing tasks that involve repetition or actions of physical movement.
Hand tremors are also fairly common and can contribute to poor hand-eye coordination. They are similar to those seen in Parkinson's disease. This symptom is often the first noticeable warning sign in children with certain types of spinocerebellar ataxia.
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Difficulty learning or with other cognitive functions can serve as early warning signs of spinocerebellar ataxia. They may also be indicators that the disease is progressing. Motor learning is the process where individuals adapt their movements to natural changes within their body. This is one of many learning processes that this condition can affect.
Two other learning processes affected include visuospatial and implicit learning. Visuospatial learning is the ability to analyze and judge things based on their distance and dimensions. Patients with this condition may be unable to do certain things because they cannot gauge how close or far away certain objects are. One example of such a task is driving a car. Implicit learning is where an individual is not aware that they are learning. Learning how to socialize better while having natural conversations with others is one example. Having difficulty with implicit learning can contribute to other impairments. This includes speech development problems in younger children with this condition.