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PURA syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

PURA syndrome

PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, often accompanied by very weak muscle tone (hypotonia) and feeding difficulties in infancy. Most affected individuals experience recurrent seizures and may have abnormalities affecting various organ systems.

Description

PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking. Expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech), and most affected individuals are unable to speak. People with PURA syndrome may learn to walk later than their peers; many are never able to walk. In infancy, affected infants have very weak muscle tone (hypotonia) and feeding difficulties. Problems with swallowing (dysphagia) can last throughout life. In addition, affected infants can be excessively sleepy (hypersomnolent), have a low body temperature (hypothermia), and have short pauses in breathing (apnea) or episodes of abnormally slow breathing (hypoventilation). These breathing problems usually go away after age 1.

Recurrent seizures (epilepsy) are also common in PURA syndrome. Seizures usually begin before age 5 with uncontrolled muscle jerks (my

Frequently Asked Questions

multidisciplinary approach is crucial. This often includes physical therapy to address motor delays and hypotonia, occupational therapy for daily living skills, and speech therapy to support communication, especially given the severe impact on expressive language. Nutritional support and strategies for feeding difficulties are also very important.
In infants, early signs often include very weak muscle tone (hypotonia), significant feeding difficulties, and excessive sleepiness (hypersomnolence). Parents might also notice a low body temperature (hypothermia) and breathing issues like short pauses (apnea) or abnormally slow breathing (hypoventilation), though these breathing problems typically improve after age one.
Seizures are common, often starting before age five. Parents should work with their child's neurologist to develop a seizure action plan, including prescribed medications. Emergency care should be sought if a seizure lasts longer than usual, if there are multiple seizures in a short period, or if the child has difficulty breathing or severe changes in consciousness after a seizure.
PURA syndrome is typically caused by a new (de novo) genetic change in the PURA gene, meaning it's usually not inherited from parents. In most cases, the risk of having another child with PURA syndrome is very low. However, genetic counseling is recommended to discuss the specific family situation and recurrence risks.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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