Neurology Neurogenetics Program

Answers and Treatments for Genetic Neurological Disorders in Children

The Phoenix Children’s Neurology Neurogenetics Program is led by pediatric neurologists specializing in diagnosis and treatment of complex inherited neurological conditions.

If your child has unexplained neurological symptoms or a new diagnosis, we know your journey to our program has likely been long and overwhelming. Here, our pediatric neurologists provide comprehensive, coordinated care, helping your family find answers and develop a personalized treatment plan. As a nationwide leader in innovative research and life-changing gene therapies, we connect families with advanced treatment options and specialists who have expertise in your child’s condition – helping you move forward with hope and confidence.

A neurogenetics evaluation may be helpful if your child has:

Unexplained seizures or epilepsy
Developmental delays or regression
Cerebral palsy or differences in movement or coordination
Birthmarks or physical findings associated with neurological syndromes
Certain neurological conditions with no clear cause

Our specialists are experienced in identifying genetic causes of neurological symptoms and helping families understand what those results mean.

Diagnosis and Personalized Care for Complex Neurological Conditions

When a child has a complex or unexplained neurological condition, finding answers can be challenging. Our program is designed to uncover genetic causes and translate that information into clear, actionable care.

We provide:

Advanced genetic and neurological evaluation
Access to current diagnostic technologies, including whole exome and whole genome sequencing
Personalized treatment plans based on genetic findings
Coordinated care across multiple pediatric specialties
Opportunities to participate in clinical trials and research

As one of the few dedicated pediatric neurology neurogenetics programs in the region, we also offer access to emerging gene therapies and innovative treatments.

If your child has a neurological condition that may have a genetic cause, our team is here to help.

A Team of Experts Dedicated to Your Child

Neurological disorders can affect nearly every part of the body. Our team cares for infants, children and adolescents with a wide range of genetic neurological conditions. At Phoenix Children’s, your child will have access to condition-specific specialists, including genetic counselors and medical geneticists, to diagnose, manage and treat a wide range of neurological conditions, including those with a known neurogenetic basis. Together, this team meets to review your child's care, share findings across specialties and align on next steps – so you leave with a coordinated plan, not appointments spread across disconnected providers.

The Neurology Neurogenetics Program explores undefined diseases that may have a neurogenetic component. For conditions with a known genetic component, your child will be seen in specific programs and clinics. For example, at Phoenix Children’s 22q Clinic, your child will have access to specialists who have extensive experience treating 22q11.2 deletion syndrome. The Neuromuscular Program at Barrow Neurological Institute at Phoenix Children’s is one of the nation's largest and most comprehensive programs, specializing in the treatment and management of a wide range of neuromuscular conditions, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA).

No matter where your child is on their health journey, we are committed to ensuring they are seen by the right provider at the right time for seamless, coordinated care.

Research, Clinical Trials and Innovation

Our program is actively involved in advancing the field of neurogenetics through research and clinical trials. Our goal is to bring the latest scientific advances into your child’s everyday care. For many families, access to research means access to treatments that aren’t widely available.

Your child may have access to:

Clinical trials for genetic neurological conditions
Emerging gene-based and precision therapies
Research-driven diagnostic innovations
New approaches to individualized treatment

Pediatric neurogenetics focuses on identifying and treating neurological disorders in children that may be linked to inherited conditions or changes in their genes. These conditions can affect the brain, muscles, movement, development and behavior, often causing symptoms that can be difficult to explain or diagnose. Advances in diagnostic testing and targeted therapies are helping pediatric neurologists better understand the underlying cause of these conditions, leading to more personalized treatment plans and improved outcomes for many children.

A child may benefit from a neurogenetics evaluation if they have:

A family history of genetic neurological conditions
An undiagnosed neurological disorder
Developmental delay or regression
Movement disorders such as ataxia or dystonia
Muscle weakness or suspected neuromuscular disease
Unexplained seizures or epilepsy

A neurogenetics evaluation typically includes:

Detailed medical and family history
Genetic counseling
Genetic testing, such as whole exome sequencing or genome sequencing
Neurological examination

The goal is to identify the underlying cause of symptoms and guide treatment.

Common types of genetic testing for neurological conditions include:

Targeted gene panels
Whole exome sequencing
Whole genome sequencing

These tests help identify genetic changes that may explain a child’s neurological condition.

Conditions treated in our pediatric neurology neurogenetics program include:

Developmental disorders, including genetically linked cerebral palsy, developmental delays and autism spectrum disorder
Genetic epilepsies
Movement disorders
Neurocutaneous disorders
Neuromuscular disorders, such as muscular dystrophy

Yes, genetic testing can often identify the underlying cause of unexplained neurological symptoms, especially in children with complex or undiagnosed conditions. A diagnosis can provide valuable answers, help guide treatment decisions, clarify prognosis, connect families with appropriate resources – and in some cases with clinical trials or targeted therapies.

An early neurogenetics diagnosis can:

Help start targeted treatments sooner
Improve long-term outcomes
Prevent unnecessary testing
Provide clarity for families and care teams

No, not all children with neurological symptoms need genetic testing. A neurogenetics specialist will determine whether genetic testing is appropriate based on your child’s symptoms, history and clinical findings.

Yes. While many genetic neurological disorders do not yet have a cure, treatment options continue to expand. Depending on your child's diagnosis, therapies may help manage symptoms, slow disease progression or improve quality of life. For some conditions, precision medicine and gene-targeted therapies expand treatment possibilities by specifically addressing the underlying cause of the disorder.

To schedule an evaluation with the Neurology Neurogenetics Program at Phoenix Children’s, contact Neurology or request an appointment online. Referrals from healthcare providers are welcome but not always required.