Phenotypic Analysis of Patients with SMC1A Mutations and Epilepsy

The autonomic nervous system is responsible for controlling bodily functions without a person needing to think about them, for example, breathing, heartbeat and digestion. Most individuals with CdLS have mild abnormalities in their autonomic nervous system and approximately 25% of individuals with CdLS will have marked abnormalities. Dystonia (uncontrolled muscle movements) and catatonia (apparent unresponsiveness and inability to move) are rare in CdLS.

Seizures are common in the CdLS spectrum. A seizure is caused by an abnormal discharge of electrical activity in the brain.

There is some evidence that individuals with CdLS have sensory deficits and temperature insensibility. This means that the part of the nervous system associated with pain and sensation might not be sending the right signals to the brain.