Early Signs of Spinocerebellar Ataxia: What to Watch Out For

Classified as a rare disease, Spinocerebellar Ataxia causes a progressive decline in mobility and functioning due to severe damage caused to the cerebellum. Getting the right treatment on time is crucial to maximizing the patient’s physical independence, which is why one must be quick to act when the first symptoms show up. Here’s a guide to the early signs of Spinocerebellar Ataxia that you or your loved ones may exhibit.

Understanding Spinocerebellar Ataxia

Spinocerebellar Ataxia, Spinocerebellar Atrophy, or Spinocerebellar Degeneration is a genetic disease caused by either a recessive or dominant gene. It refers to a group of ataxias that cause harm to the cerebellum, the part of the brain which maintains balance and controls movements. 

Spinocerebellar Ataxia may result in non-coordinated gait, impaired hand-eye coordination, and abnormal speech. Because this condition affects the nervous system, it is also known as a nervous disorder. Currently, scientists have identified about 40 different types of it.

Causes of Spinocerebellar Ataxia

While most cases of Spinocerebellar Ataxia are genetic in origin, diseases or trauma that affect the cerebellum or the nerves connecting the cerebellum to the muscle can also be a cause. Some non-genetic ways in which Spinocerebellar Ataxia might present include:

• Accidents that cause trauma to the brain or spinal cord

• Death of brain cells brought on by a stroke

• Autoimmune conditions like celiac disease, multiple sclerosis, or sarcoidosis

• Cerebral palsy, which involves damage to a child’s brain during or shortly after birth

• Infections or malignant growths in the brain

• Paraneoplastic syndromes, which are rare disorders triggered by the immune system’s response to a malignant tumor

• Toxic reaction to certain medications

• Deficiency in Vitamin E or Vitamin B12

• Exposure to heavy metals like lead or mercury

Early signs of Spinocerebellar Ataxia

The initial symptoms of the disease tend to manifest when the patient is in their mid-adulthood, although they may show up sooner in some cases. Hence, early diagnosis and the commencement of the best Spinocerebellar Ataxia treatment is all the more essential. Some of the early signs and symptoms to watch out for include:

• Coordination with movements and balance

• Loss of muscle coordination in one arm or leg

• Speech and swallowing difficulties

• Reduced ability to make rapid eye movements (saccadic slowing)

• Involuntary back-and-forth eye movements (nystagmus)

• Poor hand-eye coordination

• Uncoordinated, clumsy gait

As the disease progresses, there may be some additional symptoms such as:

• Weakness and loss of sensation in the limbs (peripheral neuropathy)

• Involuntary tremors

• Muscle stiffness and/or spasms

• Involuntary jerking movements

• Slow movements (bradykinesia)

• Short-term memory and planning problems

• Overall intellectual decline

If you or someone else has been displaying these symptoms, visit your doctor and get a check-up immediately. Genetic testing is the most common way to test for Spinocerebellar Ataxia, particularly if someone in the immediate family has the disease or is a carrier.

Treatment for Spinocerebellar Ataxia

Getting the best Spinocerebellar Ataxia treatment and medication can significantly ease the symptoms and enable a more independent lifestyle. Physical therapy, including strength exercises and balance training, can help address coordination problems and improve mobility while reducing the risk of falls and injuries. Patients may also benefit from using a wheelchair, crutches, a walker, or other assistive equipment for getting around. Occupational Therapy can also help perform daily tasks such as eating, getting dressed, and bathing. Whereas, Speech Therapy helps to communicate and overcome difficulties with swallowing. The healthcare team will usually adjust the treatment based on how the disease is progressing over time.

Spinocerebellar Ataxia is a challenging disease to live with, but timely diagnosis and the right treatment can considerably improve the quality of life. It is thus essential to stay vigilant about the early signs and symptoms mentioned above, especially if there is a genetic history of the condition.