Autosomal recessive cerebellar ataxia type 1

Autosomal recessive cerebellar ataxia type 1 (ARCA1), also known as ARCA or SCAR1, is a rare genetic disorder that primarily affects the cerebellum. It is characterized by progressive ataxia, a condition that affects balance, coordination, and speech.

Symptoms

The symptoms of ARCA1 typically begin in early childhood and progressively worsen over time. These may include:

• Ataxia: Difficulty with balance and coordination, which can affect walking and speech.
• Dysarthria: Difficulty articulating words due to problems with muscle control.
• Nystagmus: Involuntary eye movements.
• Dysmetria: Difficulty judging distance or scale.
• Muscle weakness: Particularly in the lower limbs.

Causes

ARCA1 is caused by mutations in the ATN1 gene. This gene provides instructions for making a protein that is involved in the normal functioning of nerve cells, particularly in the cerebellum. Mutations in the ATN1 gene disrupt this normal functioning, leading to the symptoms of ARCA1.

Diagnosis

Diagnosis of ARCA1 is based on clinical symptoms, family history, and genetic testing. Magnetic resonance imaging (MRI) may also be used to identify changes in the cerebellum.

Treatment

There is currently no cure for ARCA1. Treatment is supportive and aims to manage symptoms. This may include physical therapy, speech therapy, and medications to manage specific symptoms.

Prognosis

The prognosis for individuals with ARCA1 varies. The disorder is progressive, meaning symptoms typically worsen over time. However, the rate of progression can vary widely among individuals.

See also

• Ataxia
• Genetic disorder
• ATN1