PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare genetic neurological condition caused by a point mutation in the PURA gene. People with this condition are typically affected from birth and may show signs such as low muscle tone (hypotonia) that is apparent during the neonatal period, as well as difficulties with breathing and feeding. This condition is characterized by a global delay in development, including delays in speech and motor skills. Additional features often include seizures or seizure-like episodes, visual impairments, and brain dysfunction (encephalopathy). The overall presentation may include a characteristic facial appearance described as myopathic facies, and many individuals experience nonverbal or non-ambulatory progression over time.

Common symptoms include neonatal hypotonia (low muscle tone), respiratory and feeding difficulties, and a global developmental delay where speech and movement may be significantly affected. Seizures or seizure-like episodes, visual impairments, and encephalopathy are also frequently seen in people with this condition. Myopathic facies (a distinct appearance of the facial muscles) is another noted characteristic.

This condition is caused by a point mutation in the PURA gene. As a genetic disease, the mutation leads to the neurological and developmental features that are characteristic of the syndrome. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene can cause the disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.