A rare genetic condition that negatively affects the nervous system is called PURA syndrome. It occurs very rarely and may cause severe mental and physical disabilities and developmental delays, such as problems with feeding, walking, and speaking. Most adults and children with this syndrome have seizures that do not disappear, but with treatment, you can reduce the symptoms and improve your quality of life.
Experts believe that PURA syndrome occurs due to certain genetic mutations (changes) linked to the brain and nerve cell development. Newborns with this condition usually have breathing and feeding problems. Unfortunately, there is no way to cure this genetic disorder, but there are some treatment options that can reduce the risk of serious complications and relieve the symptoms.
This condition is also known as intellectual developmental delay, autosomal dominant 31, PURA-related neurodevelopmental disorder, or PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome. Generally, most people with this condition develop epilepsy (including drug-resistant epilepsy). This type of epilepsy does not improve with medicines.
This condition occurs very rarely, and it affects about 500 adults and children in the whole world. The first time PURA syndrome appeared in medical literature was in 2014.
Symptoms
The symptoms of PURA syndrome may negatively affect multiple parts of the body. They often begin in infancy or early childhood. Moreover, most people with this syndrome frequently experience focal or generalized seizures.
Symptoms in Newborns
- Difficulties with feeding or breathing
- Need for medical support (such as feeding or breathing tubes)
- Dysphagia (swallowing problems that may become chronic beyond age 1)
Symptoms in Older Children
- Walking problems
- Inability to speak or understand language
- Poor muscle (motor) skills
- Frequently use short words or phrases to communicate
- Seizure-like movements, such as myoclonus (involuntary muscle twitching)
Usually, people with this condition are not able to control these seizure-like movements. In rare cases, people with this genetic disorder may develop a severe and complex form of epilepsy known as Lennox-Gastaut syndrome.
General Symptoms of PURA Syndrome
Check below some common symptoms of this genetic condition:
- Bone and joint problems (such as scoliosis, hip dysplasia, and others)
- Breathing problems (such as sleep apnea, hypoventilation, and others)
- Hypothermia (low body temperature)
- Hypersomnia (excessive tiredness)
- Strabismus (eye problems)
- Frequent hiccups
- Gastrointestinal issues (such as constipation)
- Hypotonia (low muscle tone)
- Gait disorder (unsteady balance or walking)
- Vision problems
People with this syndrome may also develop the following symptoms that are less common. Examples include:
- Heart defects
- Urinary and reproductive organ problems
- Endocrine system problems, such as vitamin D deficiency or precocious puberty
Immediately contact your healthcare professional if you or your child has any of the previous symptoms. Early detection and treatment are very important in preventing life-threatening complications.
Causes
This condition occurs due to a genetic mutation in a specific gene called the PURA gene. This gene is involved in brain development, and a mutation can affect the nerve cell (neuron) growth and the formation of myelin. This is a protective covering of the nerves that help send their signals.
Furthermore, this is a congenital (present at birth) condition that negatively affects the nervous system. The abnormal gene that causes this condition can pass from the biological parents to their biological children. Sometimes, PURA syndrome occurs in families without a history of the disease.
Complications
This genetic condition may cause some complications, especially if it is left untreated. Check below some examples:
- Developmental and intellectual disability
- Epilepsy
- Hypotonia (low muscle tone)
- Movement problems (including motor skills, balance, and walking)
- Excessive daytime drowsiness (hypersomnolence)
- Breathing problems
- Osteoporosis or osteopenia
- Endocrine disorders
- Urogenital problems (kidney and genital abnormalities)
The previous list does not contain a full list of complications of PURA syndrome. However, doctors may help reduce the risk or even prevent them. Additionally, there is no way to prevent this condition because it is a genetic disorder. However, you can perform some genetic tests before pregnancy to make sure you do not have the abnormal gene (especially if you have a family history of the disease). It is important to understand the risks of having children with this genetic disorder.
Diagnosis
Usually, it is difficult to diagnose this syndrome during a physical examination. Moreover, the symptoms of this syndrome resemble other health conditions. However, to confirm or rule out PURA syndrome, doctors often perform the following tests. Examples include:
- Blood tests
- Breathing tests
- EEG (electroencephalogram)
- Eye examination
- Imaging tests – The following tests are used to get detailed images of different structures and organs in the body. Doctors often perform ultrasounds, MRI (magnetic resonance imaging) scans, or X-rays
Are There Other Conditions Like PURA Syndrome?
In general, there are multiple health conditions that can cause symptoms similar to this syndrome. Check below some of them:
- Angelman syndrome
- Congenital central hypoventilation syndrome (this is a rare neurological disorder that negatively affects breathing)
- Myotonic dystrophy (a type of muscular dystrophy)
- Nerve signal disorders (including Parkinson’s disease or Alzheimer’s disease)
- Pitt-Hopkins syndrome (this is a rare genetic condition that often causes developmental delays and epilepsy)
- Prader-Willi syndrome
- Rett syndrome
The previous list does not contain all possible disorders that can be mistaken for PURA syndrome.
Treatment
Usually, people with this syndrome need a healthcare team to manage the condition. It may include:
- Ophthalmologists (eye care specialists)
- Geneticists (genetics specialists)
- Neurologists (nervous system experts)
- Occupational and physical therapists
- Orthopedic surgeons
- Pediatricians
- Pulmonologists (respiratory system specialists)
- Speech-language pathologists
The treatment usually depends on several factors. For example, the severity of the condition, age, and preferences. Check below some treatments often recommended by doctors:
- Physical therapy to improve mobility
- Speech and language therapy to improve communication
- Surgery (sometimes) to fix facial, heart, skeletal, and other abnormalities
- Feeding or swallowing support
- Antiseizure medicines
- Supportive equipment, including adaptive strollers, braces, orthotics, walkers, or wheelchairs
Frequently Asked Questions
Is there a cure for PURA syndrome?
It is not possible to cure this condition. The only way to prevent serious complications is early detection and proper treatment. Doctors may also recommend therapies to improve the symptoms and the quality of life.
What is PURA syndrome’s life expectancy?
The life expectancy varies among people with this syndrome. However, with good treatment, people lived up to their 50s. For more details, discuss it with your doctor.
How many cases of PURA syndrome are there?
According to some data, this condition occurs in about 1 in 1,000,000 people. Therefore, in 2024, fewer than 700 cases of PURA syndrome were identified in the entire world. If you have any other questions, ask your healthcare provider.
