PURA Syndrome

What is PURA syndrome?

PURA syndrome is an extremely rare genetic disorder that affects the nervous system. It causes moderate to severe developmental delays and learning disabilities. PURA syndrome often leads to movement difficulties, seizures (epilepsy) and other health issues.

Researchers believe genetic changes (mutations) linked to brain and nerve cell development cause PURA syndrome. Babies born with the condition often have feeding or breathing difficulties that may resolve. Many older children can't speak or walk on their own.

PURA syndrome has no cure. But treatment can help you and your child manage symptoms and reduce complications. Early detection is important.

Who gets PURA syndrome?

PURA syndrome is a congenital (present at birth) disease that affects the nervous system. Parents can pass it to their biological children. PURA syndrome can also affect children in families with no history of the disorder.

Are there other conditions like PURA syndrome?

Conditions with symptoms that resemble PURA syndrome include:

• Angelman syndrome.
• Congenital central hypoventilation syndrome, a rare neurological disorder that affects breathing.
• Myotonic dystrophy (a type of muscular dystrophy).
• Nerve signal (neurotransmitter) disorders such as Alzheimer's disease or Parkinson's disease.
• Pitt-Hopkins syndrome, a rare genetic disorder that causes developmental delays and epilepsy.
• Prader-Willi syndrome.
• Rett syndrome.

Are there other names for PURA syndrome?

Other names for PURA syndrome are:

• Intellectual developmental delay, autosomal dominant 31.
• PURA-related neurodevelopmental disorder.
• PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome.

How common is PURA syndrome?

PURA syndrome is a rare condition that affects more than 470 adults and children worldwide. It first appeared in medical literature in 2014.

How is PURA syndrome related to epilepsy?

Many people born with PURA syndrome develop epilepsy, including drug-resistant epilepsy. This type of epilepsy doesn't improve with medication. People most often experience focal or generalized seizures. Symptoms typically begin in infancy or early childhood.

What causes PURA syndrome?

The cause of PURA syndrome is a mutation, or change, in a specific gene (PURA gene) that’s involved in typical brain development. The mutation in the PURA gene may also affect nerve cell (neuron) growth and the formation of myelin, a substance that covers nerves and helps send their signals.

What are the symptoms of PURA syndrome?

Symptoms of PURA syndrome can affect many parts of the body. Children born with the condition experience moderate to severe learning disabilities and developmental delays.

Newborns with PURA syndrome:

• Often have trouble with feeding or breathing.
• May need medical support (feeding or breathing tubes), though breathing problems usually go away after age 1.
• May have feeding or swallowing (dysphagia) issues that become chronic, lasting beyond age 1.

Older children with PURA syndrome often:

• Can't walk properly and have poor muscle (motor) skills.
• Understand language but cannot speak.
• Use only short words or phrases to communicate, if they can speak.

Most people with PURA syndrome have seizures (epilepsy) or seizure-like movements. These usually:

• Begin before age 5 with involuntary muscle twitching (myoclonus).
• Are difficult to control.
• May progress to Lennox-Gastaut syndrome, a severe and complex form of epilepsy.

Other common symptoms among children and adults include:

• Bone and joint issues, including hip dysplasia and scoliosis.
• Breathing problems such as sleep apnea or slow, shallow breathing (hypoventilation).
• Difficulty warming your body (hypothermia).
• Excessive fatigue (hypersomnia).
• Eye problems such as crossed eyes (strabismus).
• Frequent hiccups.
• Gastrointestinal tract issues such as constipation.
• Low muscle tone (hypotonia).
• Unsteady balance or walking (gait disorder).
• Vision problems.

Less common symptoms include:

• Heart defects.
• Hormone (endocrine system) problems, including vitamin D deficiency or precocious (early) puberty.
• Urinary and reproductive organ problems.

How is PURA syndrome diagnosed?

It can be challenging to diagnose PURA syndrome during a physical exam. The symptoms resemble those of other conditions. Healthcare providers need to perform genetic tests to confirm a diagnosis.

Depending on your child's symptoms, your healthcare provider may also do:

• Blood tests.
• Breathing tests.
• EEG.
• Eye exam.

To get more information, your provider may order imaging tests, including:

• MRI.
• Ultrasound test.
• X-ray.

Is there a cure for PURA syndrome?

There is no cure for PURA syndrome. Early detection and treatment can help reduce the risk of complications such as scoliosis. Healthcare providers can recommend therapies to help you and your child manage symptoms. With the right treatments, your child can take part in as many activities as possible.

Who might be on your child's treatment team for PURA syndrome?

If your child has PURA syndrome, their care team may include specialists such as:

• Eye care specialist (ophthalmologist).
• Genetics specialist (geneticist).
• Nervous system expert (neurologist).
• Occupational therapist.
• Orthopedic surgeon.
• Pediatrician.
• Physical therapist.
• Respiratory system specialist (pulmonologist).
• Speech-language pathologist.

How is PURA syndrome treated?

Treatment for PURA syndrome depends on your child's symptoms and their severity. Newborns with PURA syndrome often need monitoring and feeding or breathing support in the hospital.

Treatment for older children usually involves:

• Speech and language therapy to improve communication.
• Physical therapy to improve mobility.
• Surgery, in some cases, to correct facial, heart, skeletal or other abnormalities.

Your child may receive:

• Antiseizure medications.
• Communication aids.
• Feeding or swallowing support.
• Physical and occupational therapy.
• Speech and language therapy.
• Supportive equipment such as adaptive strollers, braces, orthotics, walkers or wheelchairs.

How can I reduce my child’s risk of developing PURA syndrome?

There is no way to prevent PURA syndrome, and nothing you do causes it. It occurs due to genetic changes (mutations) during fetal development.

What’s the outlook for PURA syndrome?

PURA syndrome is a lifelong condition without a cure. Most children will have moderate to severe learning disabilities and developmental delays. Many won’t speak or walk on their own. But effective treatments can help your child enjoy an improved quality of life.

When should I seek care for my child?

Early detection of PURA syndrome is important to manage symptoms and reduce the risk of complications. Healthcare providers will likely check your child regularly to assess their health and symptoms. Your provider can work with you to develop a personalized care plan to meet your child's needs and goals.

A note from Cleveland Clinic

It's natural to feel overwhelmed by a diagnosis of PURA syndrome. The condition is an extremely rare genetic disorder that affects the nervous system, causing severe learning disabilities, developmental delays and, often, epilepsy. But the right combination of treatments can help your child have an improved quality of life. Talk to your healthcare provider about effective therapies that can make a difference as your child grows.