What is Pura Syndrome?

Pura syndrome is a rare genetic disorder, only recently described in 2014, caused by a defect in the pura gene or a deficiency of one copy of the gene.

The pura gene is located on the long arm of chromosome 5 (5q31.2) and is responsible for encoding the Pur-alpha protein. This gene has a particularly important role in postnatal brain development.

Pura syndrome is characterized by growth retardation, learning disabilities, respiratory problems, seizures and low muscle tone (hypotonia). Other symptoms seen;

• myopathic face (facial muscles are weak and it is difficult to open the eyelids and to lift the lips)
• visual disturbances (strabismus, hyperopia, nystagmus)
• first step delay (28 months-7 years)
• movement disorder, hypermobility (excessive and involuntary movement of joints)
• orthopedic problems such as hip dislocation, scoliosis
• repetitive hand movements
• epilepsy (50%)
• Endocrine disorders such as vitamin D deficiency
• excessive hiccups
• swallowing and feeding disorders
• excessive saliva flow
• reflux
• constipation
• Definitive diagnosis is made by molecular genetic analysis in cases of clinical and phenotypic suspicion.

Treatment in Pura syndrome is determined specifically for the individual. Physical therapy support for movement and walking, medication with neurology follow-up for epilepsy or seizures, special education support for speech and mental retardation, and a multidisciplinary approach for other existing problems are important.

It has been observed that even patients with severe muscle weakness can start walking after the age of 5.

Patients with swallowing difficulties due to muscle weakness may require gastrostomy tube placement.

There are not enough studies on tooth and jaw development. Individualized treatment and recommendations can be made after a detailed examination of oral and dental health.

It should not be forgotten that gingival problems and gingival enlargement can be seen in people who use epileptic drugs. Wear and erosion of the teeth can be seen due to reflux. Although there are not enough studies, epileptic drugs, underdeveloped jaw and facial muscles, and reflux may cause teeth clenching and teeth grinding.

It is necessary and important that the parent or responsible person performs dental cleaning and oral care with fluoridated toothpaste twice a day, even if the patient is unable to spit. The dentist should determine how oral and dental care should be done in a way that is specific to the person according to his/her cognitive abilities and physical coordination, and should explain in detail to him/her and/or the parent or responsible person, and should guide the use and selection of toothpaste, toothbrush, dental floss, mouthwash.

Regular dental check-ups at least twice a year are important for early detection of problems and to maintain the current situation.