PURA syndrome

PURA Syndrome PURA Syndrome is a rare genetic disorder characterized by developmental delay, hypotonia, and a variety of neurological and systemic manifestations. It is caused by mutations in the PURA gene, which plays a crucial role in the development and function of the nervous system.

Overview

PURA Syndrome is a condition that affects multiple systems of the body, primarily impacting neurological development. It is named after the PURA gene, which is located on chromosome 5. The syndrome was first described in 2014, and since then, several cases have been identified worldwide.

Genetics

The PURA gene provides instructions for making a protein that is involved in the regulation of gene expression and is crucial for normal brain development. Mutations in this gene lead to the symptoms observed in PURA Syndrome. These mutations are typically de novo, meaning they occur spontaneously and are not inherited from the parents.

Clinical Features

Individuals with PURA Syndrome often present with:

• Developmental Delay: Most children with PURA Syndrome experience significant delays in reaching developmental milestones such as sitting, walking, and talking.
• Hypotonia: Low muscle tone is a common feature, leading to difficulties with movement and posture.
• Seizures: Many affected individuals experience seizures, which can vary in type and severity.
• Feeding Difficulties: Infants may have trouble feeding due to poor muscle tone and coordination.
• Sleep Disturbances: Sleep problems, including difficulty falling asleep and staying asleep, are frequently reported.

Diagnosis

Diagnosis of PURA Syndrome is typically made through genetic testing, specifically through sequencing of the PURA gene. Clinical evaluation and observation of characteristic symptoms also support the diagnosis.

Management

There is currently no cure for PURA Syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Physical Therapy: To improve muscle tone and motor skills.
• Speech Therapy: To assist with communication difficulties.
• Occupational Therapy: To help with daily living skills.
• Seizure Management: Antiepileptic medications may be prescribed to control seizures.

Research and Future Directions

Research into PURA Syndrome is ongoing, with efforts focused on understanding the underlying mechanisms of the disorder and developing targeted therapies. Genetic studies continue to identify new mutations and expand the phenotypic spectrum of the syndrome.

See Also

• Developmental Delay
• Hypotonia
• Genetic Disorders

External Links

• [PURA Syndrome Foundation](https://www.purasyndrome.org)
• Genetic and Rare Diseases Information Center

NIH genetic and rare disease info

• NIH info on PURA syndrome

PURA syndrome is a rare disease.