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What is PURA Syndrome?
Written by Medicover Team and Medically Reviewed by Dr Prachi Rahul Pawar , Neurologists
PURA Syndrome is a rare genetic condition that affects brain development and nervous system function. It is caused by mutations in the PURA gene, which plays a crucial role in the growth of nerve cells and the formation of myelin, a substance that insulates nerves and helps them transmit signals.
The condition typically appears at birth or in early infancy and causes a wide range of symptoms, including developmental delays, intellectual disability, hypotonia (low muscle tone), seizures, and feeding or breathing difficulties.
While there is no cure for PURA Syndrome, early diagnosis and a complete care plan can help manage symptoms, support development, and improve quality of life.
Who Gets PURA Syndrome?
PURA Syndrome is a congenital condition, present at birth, and usually results from de novo mutations, meaning the genetic change is not inherited but occurs spontaneously. However, in rare cases, it may be inherited in an autosomal dominant pattern.
Children of any sex or ethnic background can be affected, even if there is no family history of the condition.
Symptoms of PURA Syndrome
Symptoms of PURA Syndrome can vary but typically affect motor skills, cognitive development, and multiple body systems. Signs often appear in the newborn period or early childhood.
In Newborns and Infants
- Difficulty feeding or sucking
- Breathing problems, especially during sleep (may improve after age 1)
- Hypotonia (low muscle tone)
- Seizures (especially myoclonic seizures before age 5)
- Delayed motor milestones (rolling, sitting, crawling)
In Older Children and Adults
- Delayed walking or inability to walk
- Limited or absent speech, although many understand language
- Seizures, which can be difficult to control
- Movement problems (poor coordination or unsteady gait)
- Learning disabilities or intellectual disability
Additional Symptoms
- Orthopedic Issues: Scoliosis, hip dysplasia
- Breathing Disorders: Sleep apnea, hypoventilation
- Digestive Problems: Constipation, swallowing difficulties
- Eye Issues: Strabismus (crossed eyes), vision problems
- Neurological Signs: Excessive fatigue (hypersomnia), frequent hiccups, temperature regulation issues (hypothermia)
- Less Common: Heart defects, early puberty, vitamin D deficiency, urinary or reproductive abnormalities
What are the Causes and Rsik Factors for PURA Syndrome?
PURA Syndrome is caused by mutations in the PURA gene located on chromosome 5. This gene helps produce the Pur-alpha protein, which is vital for:
- Brain cell development
- Gene expression
- Formation of myelin
Mutations interfere with these functions, leading to the symptoms seen in PURA Syndrome. In most cases, these are not inherited but occur randomly during early development.
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Get Second OpinionHow Is PURA Syndrome Diagnosed?
Diagnosis typically begins with a clinical evaluation by a pediatric neurologist or geneticist, especially when a child shows signs of developmental delays, hypotonia, or seizures. Physicians often combine detailed developmental history, physical examination, and neurological assessment.
Genetic Testing
Confirmatory diagnosis requires genetic testing such as:
- Whole-exome sequencing (WES)
- Targeted gene panels
- Chromosomal microarray analysis (CMA)
Other Tests Based on Symptoms
At Medicover, our team uses advanced genetic testing tools and multidisciplinary assessments to identify PURA Syndrome accurately and early. Our specialists include geneticists, neurologists, and pediatricians experienced in rare neurological disorders.
Complications Associated with PURA Syndrome
PURA Syndrome can lead to a variety of complications depending on the severity of neurological involvement:
- Seizure Disorders: Seizures may be frequent and difficult to control in some children.
- Respiratory Problems: Apneas or other breathing irregularities can affect sleep and oxygenation.
- Gastrointestinal Issues: Feeding difficulties, reflux, and constipation are common and may impact growth.
- Sensory Deficits: Hearing or vision impairments may require devices or therapy.
- Delayed Motor Skills: Motor coordination can be significantly affected, requiring long-term rehabilitation support.
How Is PURA Syndrome Treated?
While there is no cure for PURA Syndrome, treatment focuses on symptom management and maximizing developmental potential. A multidisciplinary team approach is essential and may include neurologists, therapists, dietitians, and educators.
Therapeutic Interventions
- Physical Therapy: Builds muscle strength, improves posture, and enhances coordination.
- Occupational Therapy: Helps develop fine motor skills and promote independence in daily activities.
- Speech and Language Therapy: Supports communication skills, feeding/swallowing abilities, and social interaction.
Medical Management
- Seizure control: Antiepileptic medications (AEDs) to reduce seizure frequency.
- Respiratory support: Monitoring and management of breathing issues, possibly using assistive ventilation during sleep.
- Nutritional support: Feeding therapy, gastrostomy tubes, or special diets to ensure proper nutrition.
Supportive Care
- Educational interventions: Tailored learning plans through early intervention and special education.
- Assistive technologies: Augmentative and alternative communication (AAC) devices, mobility aids.
- Family counseling: Emotional support, access to PURA Syndrome support networks, and long-term care planning.
When to See a Doctor?
While every child develops at their own pace, certain signs may indicate underlying neurological or muscular issues that warrant medical attention. If you notice any of the following symptoms in your child, it's important to consult a doctor:
- Significant delays in reaching developmental milestones such as sitting, walking, or speaking
- Ongoing feeding or breathing difficulties, which may suggest neuromuscular coordination issues
- Frequent seizures, spasms, or muscle twitching, even if they seem brief or subtle
- Unusual muscle tone, including consistently low muscle tone (floppiness) or excessive stiffness and rigidity
Early assessment by a healthcare provider can help identify potential conditions, guide appropriate intervention, and improve long-term outcomes.
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Living with PURA Syndrome
Raising a child with PURA Syndrome comes with unique challenges, but many families report gradual improvement over time, especially with consistent therapy and medical support. With early diagnosis and comprehensive care, many children can learn new skills, communicate, and participate in family and community life.
Tips for Families and Caregivers
- Establish a care team with medical, educational, and therapeutic professionals.
- Keep a detailed journal of symptoms, progress, and treatment responses.
- Connect with PURA Syndrome support organizations and advocacy groups.
- Explore government or nonprofit programs offering financial or caregiving support.
Conditions Similar to PURA Syndrome
Several rare genetic disorders may mimic the symptoms of PURA Syndrome:
- Angelman Syndrome
- Pitt-Hopkins Syndrome
- Rett Syndrome
- Prader-Willi Syndrome
- Congenital Central Hypoventilation Syndrome
- Myotonic Dystrophy
- Neurotransmitter Disorders like Parkinson's or Alzheimer's disease
A genetic diagnosis helps distinguish PURA Syndrome from these conditions.
Our Experience Treating PURA Syndrome
At Medicover, we understand the challenges families face with rare conditions like PURA Syndrome. Our dedicated team offers compassionate care, early diagnosis, and personalized therapies to help children reach their full potential. We are committed to guiding families every step of the way with expert support and holistic treatment.
