Andermann syndrome is a rare inherited condition characterized by damage to nerves required for muscle movement and sensations. The majority of patients also have an incomplete connection between the two sides of the brain as the disorder affects the development of the corpus callosum.
People affected with Andermann syndrome produce a non-functional K-Cl cotransporter protein, leading to the symptoms associated with the disease, such as muscle weakness.
Take this test to find out whether you are a genetic carrier and are at risk of passing a SLC12A6 variant to your children.
Andermann syndrome is caused by genetic variation in the SLC12A6 gene. Most variants result in a K-Cl cotransporter protein that is shortened and non-functional, which appears to interfere with nerve function and the development of the corpus callosum.
Andermann syndrome is inherited in an autosomal recessive pattern, which means two defective copies of the SLC12A6 gene must be inherited in order for the disease to manifest. Those who inherit only one defective copy are known as carriers, and are at risk of passing it on to the next generation.
This test detects a genetic variant in the SLC12A6 gene that is most common in individuals of French Canadian descent.
- rs515726215 (T813fsX813)
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
- Abnormal reflexes (areflexia)
- Weak muscle tone (floppy baby syndrome, hypotonia)
- Muscle wasting (amytrophy)
- Progressive loss of sensation in the limbs
- Joint deformities (contractures)
- Abnormal curving of the spine (scoliosis)
- Facial muscle weakness
- Drooping eyelids
- Difficulty following movements with eyes due to cranial nerve problems
- Abnormal development of the corpus callosum (connects the two sides of the brain)
- Psychiatric problems including paranoid delusions, depression, hallucinations and autistic-like behavior
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