The 20 Best Pompe Disease Doctors Near Me in Florida, US

Find the Top Pompe Disease Experts and Specialists

The 20 Best Pompe Disease Doctors in Florida, US

Last Updated: 02/22/2026

Save doctors for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Already have a doctor?
Find A Second Opinion

MediFind found 44 doctor with experience in Pompe Disease near Florida, US. Of these, 41 are Experienced, 1 are Advanced and 1 are Elite.

Location
LocationClose
44 providers found
    Elite in Pompe Disease
    Pediatrics
    Elite in Pompe Disease
    Pediatrics

    UF Health Center For Pediatric Neuromuscular And Rare Diseases

    1549 Gale Lemerand Dr Fl Second, 
    Gainesville, FL 
    Languages Spoken:
    English

    Barry Byrne is a Pediatrics provider in Gainesville, Florida. Dr. Byrne is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Barth Syndrome, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, and Bone Marrow Aspiration.

    Jorge Mccormack
    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Pediatric Cardiology Associates

    625 6th Avenue South, Suite 120, Suite 120, 
    St Petersburg, FL 
    Languages Spoken:
    English, Spanish
    Offers Telehealth

    Jorge Mccormack is a Pediatric Cardiologist in St Petersburg, Florida. Dr. Mccormack is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Congenital Heart Block, Heart Murmurs, Long QT Syndrome, and Wolff-Parkinson-White Syndrome.

    Meral Gunay
    Experienced in Pompe Disease
    Pediatrics
    Experienced in Pompe Disease
    Pediatrics

    Johns Hopkins All Children's Outpatient Care, St. Petersburg

    601 5th Street South, Suite 520, Suite 520, 
    Saint Petersburg, FL 
    Languages Spoken:
    English, Turkish
    Offers Telehealth

    Meral Gunay-Aygun is a professor of pediatrics and genetic medicine at Johns Hopkins University School of Medicine. Dr. Gunay-Aygun specializes in the diagnosis and treatment of children and adults with inherited metabolic diseases including diagnostic evaluation and follow-up of newborns with abnormal newborn screens for inherited metabolic diseases. After serving 14 years as an attending physician at The Johns Hopkins Hospital in Baltimore, she joined the medical staff of Johns Hopkins All Children’s Hospital in St. Petersburg, Florida in 2022. Dr. Gunay-Aygun earned her medical degree from Hacettepe University School of Medicine, Ankara, Turkey. She completed pediatrics and medical genetics residencies at Case Western Reserve University, Cleveland, Ohio, and a biochemical genetics fellowship at the National Institutes of Health’s National Human Genome Research Institute, Bethesda, Maryland. She has made numerous research contributions, especially in the study of inherited ciliopathies, for which she has earned international recognition. Dr. Gunay-Aygun received the Innovative Leadership Award from Genetic Alliance, as well as the NHGRI Merit Award for her research on Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis. She is a member of myriad professional organizations, including the American Society of Human Genetics, the American Academy of Pediatrics, the Society of Pediatric Research and the Society for Inherited Metabolic Disorders. Dr. Gunay is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Phenylketonuria (PKU), Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.

    Learn about our expert tiers
    Experienced in Pompe Disease
    Experienced in Pompe Disease

    The Miami Genecure Diagnostic Labs

    1601 NW 12th Ave, 
    Miami, FL 
    Languages Spoken:
    English

    Manuel Viamonte is a Pediatrics provider in Miami, Florida. Dr. Viamonte is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top area of expertise is Pompe Disease.

    Experienced in Pompe Disease
    Pulmonary Medicine
    Experienced in Pompe Disease
    Pulmonary Medicine

    Karen M. Stroh MD PA

    250 2nd St E Ste 4C, 
    Bradenton, FL 
    Languages Spoken:
    English

    Karen Stroh is a Pulmonary Medicine provider in Bradenton, Florida. Dr. Stroh is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), Chronic Cough, and Bronchiectasis.

    Experienced in Pompe Disease
    Intensive Care Medicine
    Experienced in Pompe Disease
    Intensive Care Medicine

    Daniel M Cooper MD PA

    1875 Floyd St, 
    Sarasota, FL 
    Languages Spoken:
    English

    Todd Horiuchi is an Intensive Care Medicine provider in Sarasota, Florida. Dr. Horiuchi is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Chronic Cough, Mycobacterium Avium Complex Infections, Lung Nodules, Endoscopy, and Colonoscopy.

    Advanced in Pompe Disease
    Advanced in Pompe Disease

    Uf Health Medical Lab-Shands Hospital

    1600 SW Archer Rd, 
    Gainesville, FL 
    Languages Spoken:
    English

    Shelley Collins is a Pediatrics provider in Gainesville, Florida. Dr. Collins is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top area of expertise is Pompe Disease.

    Omer A. Hamid
    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Experience:
    10+ years
    Languages Spoken:
    English, Arabic

    Omer Hamid is a Neurologist in Orlando, Florida. Dr. Hamid has been practicing medicine for over 10 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Amyotonia Congenita, Congenital Myasthenic Syndrome, Dysferlinopathy, and Duchenne Muscular Dystrophy.

    Bahram Kakavand
    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Languages Spoken:
    English, Farsi, German

    I was born in Iran, moved to Germany at age 18 for college, and have lived in the United States since 1992. I’ve always been close to my parents, brothers and sister. Our relationship gave me a sense of respect for the concept of family that is reflected in the way I treat patients and families today. My interest in cardiology began when I was just eight or nine years old reading a schoolbook about heart function; I decided then and there on my career. I chose to work with children because of their great need and limited ability to express themselves. It’s rewarding to connect and understand what they’re trying to say. Because children are very delicate, I insist on precision with every service I provide. I’m also passionate about getting the diagnosis right. Sometimes parents bring their child to me after multiple doctors have given up trying to diagnose them. I like the challenge and the opportunity to provide treatment that will help. Many of my patients — for example, kids with congenital heart conditions — must be treated over a period of months or even years. I try to really manage their condition and help their family be part of the care team. I’m also interested in providing medicine that has been lacking in Florida. Dysautonomia, a nervous system disorder, is one of them. Dr. Kakavand is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Familial Neurocardiogenic Syncope, Ectopic Heartbeat, Fainting, and Inappropriate Sinus Tachycardia (IST).

    Thieu Nguyen
    Experienced in Pompe Disease
    Cardiology
    Experienced in Pompe Disease
    Cardiology

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Experience:
    7+ years
    Languages Spoken:
    English, Vietnamese

    Thieu Nguyen is a Cardiologist in Orlando, Florida. Dr. Nguyen has been practicing medicine for over 7 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Aortopulmonary Window, Aorta-Pulmonary Artery Fistula, Ventricular Septal Defects, and Heart Murmurs.

    Dima Turpin
    Experienced in Pompe Disease
    Cardiology
    Experienced in Pompe Disease
    Cardiology

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Experience:
    10+ years
    Languages Spoken:
    English, Arabic, Turkish

    Dima Turpin is a Cardiologist in Orlando, Florida. Dr. Turpin has been practicing medicine for over 10 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Aorta-Pulmonary Artery Fistula, Aortopulmonary Window, Interrupted Aortic Arch, and Patent Ductus Arteriosus.

    Aledie A. Nazario
    Experienced in Pompe Disease
    Pulmonary Medicine
    Experienced in Pompe Disease
    Pulmonary Medicine

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Experience:
    10+ years
    Languages Spoken:
    English, Spanish

    Dr. Aledie Navas is a pediatric pulmonologist and an associate professor at the University of Central Florida (UCF) School Of Medicine. She's also an invited lecturer and presenter, has made multiple appearances on radio and TV, and is an active researcher and author of peer-reviewed medical journal articles. I believe children are precious, and are a very vulnerable population that needs to be protected. Caring for them is my way to add something positive to their lives. I’m passionate about improving my patients’ quality of life. I work to accomplish this by helping to control their conditions and symptoms, and ensuring that their parents understand their medical situations, and are knowledgeable and feel comfortable in providing home care. I try to make a difference by building a relationship with each patient and family. This is important so that they feel confident in the care I deliver and the recommendations I make — and so that we can work together as a team for their child's health. Dr. Nazario is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Duchenne Muscular Dystrophy, Spinal Muscular Atrophy Type 2, Asthma, and Asthma in Children.

    Christie G. Cherian
    Experienced in Pompe Disease
    Pulmonary Medicine
    Experienced in Pompe Disease
    Pulmonary Medicine

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Experience:
    32+ years
    Languages Spoken:
    English

    Christie Cherian is a Pulmonary Medicine provider in Orlando, Florida. Dr. Cherian has been practicing medicine for over 32 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Asthma, Laryngomalacia, Pectus Excavatum, and Congenital Bronchobiliary Fistula.

    Gregg L. Friedman MD

    2500 E Hallandale Beach Blvd, Suite 702, 
    Hallandale Beach, FL 
    Experience:
    36+ years
    Languages Spoken:
    English
    Offers Telehealth

    Gregg L. Friedman MD is a Board Certified Psychiatrist with over 35 years experience . . His top areas of expertise are Schizophrenia, Schizoaffective Disorder, Bipolar Disorder (BPD), and Major Depression.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Uf Health Neuromedicine-Fixel Institute

    3009 SW Williston Rd, 
    Gainesville, FL 
    Languages Spoken:
    English
    Offers Telehealth

    Sub Subramony is a Neurologist in Gainesville, Florida. Dr. Subramony is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Myotonic Dystrophy, Myotonic Dystrophy Type 2, Hereditary Ataxia, and Paramyotonia Congenita.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    4500 San Pablo Rd S, 
    Jacksonville, FL 
    Languages Spoken:
    English

    Kathleen Kennelly is a Neurologist in Jacksonville, Florida. Dr. Kennelly is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Focal Dystonia, Chronic Polyradiculoneuritis, Guillain-Barre Syndrome, and Miller-Fisher Syndrome.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    UF Health Pediatric Infusion Center & Specialties Clinic

    1600 SW Archer Rd Fl Fourth, 
    Gainesville, FL 
    Languages Spoken:
    English

    Melissa Elder is a Pediatrics provider in Gainesville, Florida. Dr. Elder is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pignata Guarino Syndrome, Juvenile Idiopathic Arthritis (JIA), Pompe Disease, and Piebaldism.

    Experienced in Pompe Disease
    Pediatrics
    Experienced in Pompe Disease
    Pediatrics

    UF Health Center For Pediatric Neuromuscular And Rare Diseases

    1549 Gale Lemerand Dr Fl Second, 
    Gainesville, FL 
    Languages Spoken:
    English

    Carmen Leon is a Pediatrics provider in Gainesville, Florida. Dr. Leon is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Duchenne Muscular Dystrophy, Laryngomalacia, Pompe Disease, and Stridor.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Adventhealth Medical Group Genomics And Personalized Health At Orlando

    601 E Rollins St Ste 125, 
    Orlando, FL 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Majed Dasouki is a Pediatrics provider in Orlando, Florida. Dr. Dasouki is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Congenital Aplastic Anemia, and Zellweger Syndrome. Dr. Dasouki is currently accepting new patients.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    13101 Bruce B Downs Blvd, 
    Tampa, FL 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Christopher Griffith is a Medical Genetics provider in Tampa, Florida. Dr. Griffith is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, Fabry Disease, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome). Dr. Griffith is currently accepting new patients.

    Showing 1-20 of 44

    Last Updated: 02/22/2026

    What is the definition of Pompe Disease?

    Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

    Which doctors treat Pompe disease?     

    Pompe disease is usually treated by a multidisciplinary team of specialists. This care team can include a neurologist, who treats nerve and muscle problems, and a geneticist, who understands conditions caused by changes in genes. Cardiologists may help if the heart is affected, while pulmonologists help if breathing is a concern. Physical therapists and dietitians may also be part of the care team to assist with muscle strength and nutrition. 

    How is Pompe disease diagnosed?     

    Pompe disease is a rare genetic disorder, so diagnosing it can sometimes take time. Doctors usually start with blood tests to check the level of an enzyme called acid alpha-glucosidase (GAA). People with Pompe disease have low levels of this enzyme. If the blood test shows a problem, genetic testing is often done to confirm the diagnosis by looking for changes in the GAA gene. Sometimes, doctors may also do a muscle biopsy, where a small sample of muscle is taken and checked for signs of the disease. Early diagnosis is important for starting treatment as soon as possible. 

    How is Pompe disease treated? 

    Pompe disease is treated with enzyme replacement therapy (ERT). This treatment gives the body more of the enzyme that is missing or not working well. ERT is delivered through an IV and helps slow down the muscle damage caused by Pompe disease. Other treatments depend on how the disease affects the body. Physical therapy can help keep muscles strong and improve movement. Some people may need breathing support, like using a ventilator, if their lungs are affected. In severe cases, especially in infants, heart care may also be needed. A dietitian might help with nutrition, especially if eating or swallowing becomes hard.  

    What is the life expectancy for someone with Pompe disease? 

    Life expectancy for someone with Pompe disease depends on the type and when it’s diagnosed. Infantile-onset Pompe disease, which appears in babies, can be very serious. Without treatment, babies may not survive beyond their first year. With ERT and early diagnosis, some babies can live much longer. In late-onset Pompe disease, which appears later in life, life expectancy varies but can be improved with treatment. While Pompe disease is lifelong, early treatment and regular care can help people manage their symptoms and improve their quality of life.   

    When should I see a Pompe Disease doctor in Florida, US?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a Pompe Disease doctor in Florida, US?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How does MediFind rank Pompe Disease doctors in Florida, US?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by Pompe Disease doctors in Florida, US?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a Pompe Disease doctor in Florida, US?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Pompe Disease doctor search results page. 

    Why is it important to get a second opinion from a different Pompe Disease doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a Pompe Disease doctor in Florida, US?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my Pompe Disease doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my Pompe Disease doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female Pompe Disease doctors in Florida, US?

    Look for the filter feature on the left side of the Pompe Disease doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a Pompe Disease doctor that offers video calls?

    Look for the filter feature on the left-side of the Pompe Disease doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

    Read more about our Content Policy

    More Pompe Disease Doctors by city