How many people in the world have Phelan-McDermid syndrome?
Phelan-McDermid syndrome is very rare. Scientists estimate it occurs in about 2 to 10 of every 1 million live births. However, the condition can be difficult to detect, so it’s underdiagnosed. It’s been diagnosed in only about 2,200 to 2,500 people worldwide.
Is Phelan-McDermid syndrome progressive?
Only about 600 people worldwide are diagnosed with Phelan-McDermid syndrome. A few studies have suggested that the disorder’s features may change with age and may include a progressive loss of skills. However, given the syndrome’s rarity and relatively recent recognition, the frequency of those changes was unclear.
Is Phelan-McDermid syndrome autism?
Phelan-McDermid syndrome (PMS) is one of the most common genetic forms of autism spectrum disorder (ASD).
Is there a cure for Phelan-McDermid syndrome?
There is no one treatment specifically for Phelan-McDermid syndrome. Treatment is centered on treating the symptoms and careful screening for any associated disorders. Clinical trials are underway looking for new treatments for this disorder.
Is Phelan-McDermid syndrome Rare?
Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes developmental and speech delays, behavioral problems and a weakened or no ability to feel pain or sweat. Phelan-McDermid syndrome is a congenital condition (condition that is present at birth) that can affect people of all genders.
What does the SHANK3 gene do?
The SHANK3 gene provides instructions for making a protein that is found in many of the body’s tissues but is most abundant in the brain. The SHANK3 protein plays a role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs.
What is Phelan lucky?
Facebook. Twitter. Phelan Lucky is a fun way to celebrate St. Patrick’s Day (or any day you are feeling lucky) while supporting those diagnosed with the rare genetic disorder Phelan-McDermid Syndrome.
What is SHANK3 autism?
SHANK3 is a leading autism candidate gene, with mutations occurring in between 1 and 2 percent of individuals with autism spectrum disorders. SHANK3 encodes a protein that is essential for proper functioning of the synapse, the junction between neurons.
What is Phelan-McDermid syndrome?
How do you test for Phelan-McDermid syndrome?
No clinical diagnostic criteria have been established for Phelan-McDermid syndrome. The diagnosis is based on laboratory testing to establish a deletion of 22q13 or a pathogenic variant in SHANK3.
Where is SHANK3 located?
22q13 chromosomal region
SHANK3 is located in the 22q13 chromosomal region, which is deleted in individuals with Phelan-McDermid syndrome, a disorder characterized by severe intellectual disability and delayed speech, often accompanied by autism.