Autosomal Dominant Cerebellar Ataxia

Introduction

The nervous system plays an important role in conducting neurons and communication with each cell. It comprises the brain and spinal cord. Any damage to the nervous system could affect the individual's muscle coordination and overall balance. It is important to seek medical attention as early as possible in case of nerve injuries.

One such condition is cerebellar ataxia, in which the nervous system is affected, leading to changes in the overall muscle coordination of an individual. There are different types of cerebellar ataxia, which are categorized as acquired and degenerative diseases.

In acquired cerebellar ataxia, the affected child may have genes transmitted from either one or both parents if they exhibit dominant defective genes. If these defects are not addressed at a younger age, the child may be affected by various health issues as they age. It could hinder the growth and development of a child. Early diagnosis and prompt treatment help with the prognosis of the disease. Timely management has shown to be beneficial to various patients and has helped improve the quality of life.

What Is Cerebellar Ataxia?

Uncoordinated muscle movement due to an injury to the cerebellum is called cerebellar ataxia. It causes an uncertain or awkward movement, affecting the neurological system. In addition, it indicates possible damage to the brain or other parts of the nervous system. This damage could be reversible or irreversible and may require radiographic scans and imaging techniques to understand the degree of damage.

What Causes Cerebellar Ataxia?

Cerebellar ataxia can be caused by various reasons and affects children and adults. In children, it could be the aftermath of a viral illness. Other causes of cerebellar ataxia are mentioned below.

• Abscess in the cerebellum (pus accumulation).

• Alcohol.

• Certain medications.

• Trauma.

• Bleeding in the cerebellum.

• Strokes in the cerebellum.

• Chickenpox (viral infection).

• Mumps (viral infection).

• Measles (viral infection).

• Exposure to mercury and lead.

• Lyme disease (bacterial infection).

• Vitamin B12 deficiency.

What Are the Symptoms of Cerebellar Ataxia?

Some of the common symptoms of cerebellar ataxia are mentioned below

• Unsteady gait.

• Slurred speech.

• Headache.

• Dizziness.

• Repetitive eye movements.

• Slurred speech.

• Vocal changes.

What Is Autosomal Dominant Cerebellar Ataxia?

Autosomal dominant cerebellar ataxia usually begins in mid-adulthood and worsens with aging. People affected by this condition may experience abnormalities in the inner ear and excessive sleepiness in the daytime. It is due to a brief loss of muscle tone to strong emotions. Muscle weakness could cause slumping of the person and may lead to injury. Individuals may also experience a decline in their intellectual functions, resulting in dementia. It gradually causes nerve degeneration and may affect the eyes, resulting in the clouding of lenses.

The condition is caused due to the mutation of the DNMT1 gene, which contributes to making an enzyme called DNA (deoxyribonucleic acid) methyltransferase. It comprises one carbon atom and three hydrogen atoms, which act as building blocks for DNA called cytosines. Generally, DNA methyltransferase is very active in the adult nervous system and helps with neuron regulation. Neurons are the smallest nervous system unit responsible for carrying information from and to the brain.

How Is Autosomal Dominant Cerebellar Ataxia Diagnosed?

Diagnosing autosomal dominant cerebellar ataxia involves a combination of clinical symptoms, family history, and genetic testing.

• Clinical symptoms like poor coordination and balance are signs of ataxia. In addition, symptoms like tremors, dystonia (uncontrollable and painful muscle movement), and spasticity can also be seen in some patients.

• Family history is thoroughly evaluated, as autosomal dominant cerebellar ataxia is inherited.

• Genetic testing helps confirm the condition, as several genes are involved. In genetic testing, the affected individual's DNA is tested from a blood sample to identify mutations in relevant genes.

• Imaging techniques like computed tomography (CT) scan help to view the brain's structures and locate any lesions. A biopsy test is done to detect malignancy in case of any brain tumor or lesion.

How Is Autosomal Dominant Cerebellar Ataxia Treated?

Currently, there is no specific cure for the condition. However, various treatments to manage the symptoms are suggested. Some of them are mentioned below. Following them helps prevent serious complications.

• Physical Therapy: It is helpful for individuals to improve balance and coordination. Exercises help to prevent muscle stiffness and increase flexibility. In addition, it also prevents contractures and stiffness.

• Speech Therapy: Speech therapy is advised for individuals who experience difficulty in swallowing and communicating.

• Medications: No specific medication is available for treating ataxia; however, new treatments are being researched.

• Counseling and Support: Living with cerebellar ataxia can be challenging for both affected individuals.

• Surgery: In case of any tumor or lesion, surgery is done to carefully remove the tumor without damaging the neighboring blood vessels.

Can Cerebellar Ataxia Be Prevented?

Some preventable causes of ataxia are mentioned below.

• Avoiding alcohol abuse and excessive alcohol consumption can limit cerebellar damage.

• Maintaining a healthy diet is crucial as it helps to improve brain functions.

• Consuming food rich in vitamin E helps supports cerebellar functions.

• Wearing helmets and seat belts while driving is important to prevent head injuries.

• It is important to get promptly treated for injuries and infections that affect the nervous system.

• Managing underlying medical conditions has proven helpful in the disease's outcome and prognosis.

Although preventing all cases of cerebellar ataxia could be challenging, taking measures to maintain good health and avoiding harmful substances can reduce the risk of developing the condition.

Conclusion

Autosomal dominant cerebellar ataxia is a neurological disorder affecting the cerebellum, which plays a key role in coordination and balance. The condition is inherited from one of the parents and may result in symptoms like slurred speech, tremors, and fine motor skills. Some common types include spinocerebellar ataxia and Friedreich’s ataxia. Sometimes ataxia is acquired due to brain injury or tumor in the nervous system. Wearing protection like a helmet while riding can limit the extent of brain damage and save an individual’s life. There is no cure for autosomal dominant cerebellar ataxia; treating the associated symptoms helps to limit the disease progression. In addition, physical therapy and assistive devices can help improve the quality of life.