Phelan-McDermid syndrome(PMS)
Also known as: SHANK3 deficiency · 22q13.3 deletion syndrome · SHANK3-related neurodevelopmental disorder · Phelan-McDermid-Syndrom · Canine Phelan-McDermid syndrome
Overview
What it is
Phelan-McDermid syndrome is a severe neurological condition affecting the brain and nervous system, caused by a defect in the SHANK3 gene that disrupts communication between nerve cells. In dogs, this is not a naturally occurring disease found in companion pets. It has only been described in scientific literature as a genetically engineered laboratory model used to study autism spectrum disorders.
How it presents
In laboratory studies, symptoms appear during puppyhood and include muscle weakness, coordination issues, and distinct behavioral changes like a reduced capacity to learn. Because this condition is not found in the general dog population, companion pet owners will not encounter these symptoms.
Treatment
There is no cure for this condition, and any supportive care to manage the neurological symptoms would be lifelong. Managing these complex needs is estimated to cost between 3,000 and 12,000 EUR.
How it's tested
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Phelan-McDermid syndrome?
Phelan-McDermid syndrome is a severe neurological condition affecting the brain and nervous system, caused by a defect in the SHANK3 gene that disrupts communication between nerve cells. In dogs, this is not a naturally occurring disease found in companion pets. It has only been described in scientific literature as a genetically engineered laboratory model used to study autism spectrum disorders.
How is Phelan-McDermid syndrome tested?
Various clinical and genetic tests are used depending on the breed and presentation.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.