ARSACS is a neurodegenerative disorder that affects muscle movement and coordination. It is most common in individuals of French Canadian descen,t and is caused by genetic variants of the SACS gene.
Affected people produce an unstable sacsin protein, which affects the normal organization of structural proteins that provide muscle and nerve cells strength and support. Decreased neuronal signalling may lead to the symptoms associated with ARSACS.
Take this test to find out whether you are a genetic carrier for a SACS gene variant and are at risk of passing it to your children.
ARSACS is caused by genetic variants in the SACS gene. This gene gives instructions to produce the sacsin protein, which is found in cells of the brain, skin and muscles. Studies suggest sacsin may play a role in organizing structural proteins (intermediate filaments) that provide cells support and strength. Individuals with the variant produce a sacsin protein that is unstable, affecting its activity.
ARSACS is inherited in an autosomal recessive pattern, which means two defective copies of the SACS gene must be inherited in order for the disease to manifest.
This test detects a genetic variant in the SACS gene that is most common in individuals of French Canadian descent.
- rs281865117 (6594delT)
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
- Early problems with balance and coordination (cerebellar ataxia)
- Abnormal tensing of muscles in the lower limbs (spasticity)
- Reduced sensation and weakness in arms and legs (peripheral neuropathy)
- Gait disturbance and walking difficulties
- Slurred, mumbled, or abnormally slow speech (dysarthria)
- Involuntary movements of the eyes (nystagmus)
- High-arched feet (pes cavus)
- A curved spine (scoliosis)
- Yellow streaks in the light-sensitive cells of the eye (hypermyelination of the retina)
- Urinary tract problems
- Hearing loss
- Recurrent seizures (epilepsy)
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.