Refine your search results with filters

Specialty
Additional Specialty
Distance
    Gender
    Availability
    Language
    Years of Experience
    Level of Expertise

    Last Updated: 05/01/2025

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

    MediFind found 109 doctor with experience in Pompe Disease. Of these, 79 are Experienced, 21 are Advanced, 8 are Distinguished and 1 are Elite.

    Location:
    109 providers found
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Elite in Pompe Disease
    Medical Genetics | Pediatrics

    Uc Regents Uci Dept Of Pediatrics

    101 The City Dr S, 
    Orange, CA 
    Languages Spoken:
    English

    Virginia Kimonis is a Medical Genetics specialist and a Pediatrics provider in Orange, California. Dr. Kimonis and is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT).

    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    730 W Market St, 
    Lima, OH 
    Languages Spoken:
    English, Japanese
    Accepting New Patients

    Mari Mori is a Medical Genetics specialist and a Pediatrics provider in Lima, Ohio. Dr. Mori and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are FG Syndrome, Glycogen Storage Disease Type 7, Coenzyme Q Cytochrome C Reductase Deficiency, and Pompe Disease. Dr. Mori is currently accepting new patients.

    What does Elite, Distinguished, Advanced, Experienced mean?
    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Experienced in Pompe Disease
    Medical Genetics | Pediatrics

    Lifespan Physician Group Inc

    164 Summit Ave, 
    Providence, RI 
    Languages Spoken:
    English

    Lauren Massingham is a Medical Genetics specialist and a Pediatrics provider in Providence, Rhode Island. Dr. Massingham and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Hypotonia, Cholesteryl Ester Storage Disease, Wolman Disease, and Lysosomal Acid Lipase Deficiency.

    Learn about our expert tiers
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics

    Westchester Medical Center Advanced Physician Services PC

    19 Bradhurst Ave, 
    Hawthorne, NY 
    Languages Spoken:
    English

    David Kronn is a Medical Genetics specialist and a Pediatrics provider in Hawthorne, New York. Dr. Kronn and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Phenylketonuria (PKU), Krabbe Disease, and Dihydropteridine Reductase Deficiency.

    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    1000 Blythe Blvd, 
    Charlotte, NC 
    Experience:
    26+ years
    Languages Spoken:
    English

    Susan Sparks is a Medical Genetics specialist and a Pediatrics provider in Charlotte, North Carolina. Dr. Sparks has been practicing medicine for over 26 years and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Smith-Lemli-Opitz Syndrome, ALG1-CDG, and Hypotonia.

    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    Maharaj Nakorn Chiang Mai Hospital, 110 Intavarorod Road, 
    Muang, TH 
    Languages Spoken:
    English

    Pranoot Tanpaiboon is a Medical Genetics specialist and a Pediatrics provider in Muang, Thailand. Dr. Tanpaiboon and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Pompe Disease, Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), Farber Lipogranulomatosis, and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome).

    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics

    Regents Of The University Of Michigan

    1500 E Medical Ctr, Suite 0331, 
    Ann Arbor, MI 
    Languages Spoken:
    English, Urdu
    Accepting New Patients

    Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider in Ann Arbor, Michigan. Dr. Ahmad and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Propionic Acidemia, Pompe Disease, Inborn Amino Acid Metabolism Disorder, and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). Dr. Ahmad is currently accepting new patients.

    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics

    Lurie Children's Medical Group Inc.

    225 E Chicago Ave, 
    Chicago, IL 
    Languages Spoken:
    English

    Joel Charrow is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Charrow and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Achondroplasia, Pompe Disease, and Splenectomy.

    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics

    Umass Memorial Medical Group Inc

    55 Lake Ave N, 
    Worcester, MA 
    Languages Spoken:
    English
    Offers Telehealth

    Mary-alice Abbott is a Medical Genetics specialist and a Pediatrics provider in Worcester, Massachusetts. Dr. Abbott and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, Mucopolysaccharidoses (MPS), and Danon Disease.

    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics

    Icahn School Of Medicine At Mount Sinai

    1428 Madison Ave, 
    New York, NY 
    Languages Spoken:
    English

    Jaya Ganesh is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Ganesh and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Fabry Disease, Acid Sphingomyelinase Deficiency (ASMD), Pompe Disease, and De Barsy Syndrome.

    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics

    Children's Hospital Medical Center

    3333 Burnet Ave, 
    Cincinnati, OH 
    Languages Spoken:
    English
    Accepting New Patients

    Nancy Leslie is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Leslie and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Ornithine Transcarbamylase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, and Argininosuccinic Aciduria. Dr. Leslie is currently accepting new patients.

    Advanced in Pompe Disease
    Medical Genetics | Pediatrics
    Advanced in Pompe Disease
    Medical Genetics | Pediatrics
    988102 Nebraska Medical Ctr, 
    Omaha, NE 
    Languages Spoken:
    English, American Sign Language, Sign Language
    Accepting New Patients

    William Rizzo is a Medical Genetics specialist and a Pediatrics provider in Omaha, Nebraska. Dr. Rizzo and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Sjogren-Larsson Syndrome, Zellweger Syndrome, Pompe Disease, and Danon Disease. Dr. Rizzo is currently accepting new patients.

    Advanced in Pompe Disease
    Medical Genetics | Pediatrics
    Advanced in Pompe Disease
    Medical Genetics | Pediatrics

    University Of Virginia Physicians Group

    1204 W Main St, 
    Charlottesville, VA 
    Languages Spoken:
    English
    Offers Telehealth

    William Wilson is a Medical Genetics specialist and a Pediatrics provider in Charlottesville, Virginia. Dr. Wilson and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Danon Disease, Propionic Acidemia, and Multiple Sulfatase Deficiency.

    Advanced in Pompe Disease
    Medical Genetics | Pediatrics
    Advanced in Pompe Disease
    Medical Genetics | Pediatrics

    Lurie Children's Medical Group Inc.

    225 E Chicago Ave, 
    Chicago, IL 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Carolyn Jones is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Jones and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Familial Colorectal Cancer, Danon Disease, Pompe Disease, and Fabry Disease. Dr. Jones is currently accepting new patients.

    Advanced in Pompe Disease
    Medical Genetics | Pediatrics
    Advanced in Pompe Disease
    Medical Genetics | Pediatrics

    The Moses H Cone Memorial Hospital Operating Corporation

    1200 N Elm St, 
    Greensboro, NC 
    Languages Spoken:
    English
    Offers Telehealth

    Chad Haldeman is a Medical Genetics specialist and a Pediatrics provider in Greensboro, North Carolina. Dr. Haldeman and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Fabry Disease, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, and Mucopolysaccharidoses (MPS).

    Advanced in Pompe Disease
    Medical Genetics | Cardiology | Pediatrics
    Advanced in Pompe Disease
    Medical Genetics | Cardiology | Pediatrics

    Mainehealth

    1577 Congress St, 
    Portland, ME 
    Languages Spoken:
    English
    Offers Telehealth

    Wendy Smith is a Medical Genetics specialist and a Cardiologist in Portland, Maine. Dr. Smith and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Phenylketonuria (PKU), Galactose Epimerase Deficiency, Galactosemia, and Galactokinase Deficiency.

    Advanced in Pompe Disease
    Medical Genetics | Pediatrics
    Advanced in Pompe Disease
    Medical Genetics | Pediatrics

    Regents Of The University Of Michigan

    1500 E Medical Ctr Dr, 
    Ann Arbor, MI 
    Languages Spoken:
    English

    Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider in Ann Arbor, Michigan. Dr. Quinonez and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Hypomelanosis of Ito, Smith-Kingsmore Syndrome, and Microcephaly Deafness Syndrome.

    Advanced in Pompe Disease
    Medical Genetics
    Advanced in Pompe Disease
    Medical Genetics
    2165 N Decatur Rd, 
    Decatur, GA 
    Languages Spoken:
    English, Arabic, Italian, Portuguese, Spanish
    Accepting New Patients

    William Wilcox is a Medical Genetics provider in Decatur, Georgia. Dr. Wilcox and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Multiple Sulfatase Deficiency. Dr. Wilcox is currently accepting new patients.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    1101 E Marshall St, Po 980033, 
    Richmond, VA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Raymond Lewandowski is a Medical Genetics provider in Richmond, Virginia. Dr. Lewandowski and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Musculocontractural Ehlers-Danlos Syndrome (mcEDS), Vascular Ehlers-Danlos Syndrome (VEDS), Brittle Cornea Syndrome, and Ehlers-Danlos Syndrome (EDS). Dr. Lewandowski is currently accepting new patients.

    Advanced in Pompe Disease
    Medical Genetics | Pediatrics
    Advanced in Pompe Disease
    Medical Genetics | Pediatrics

    University Of California San Francisco

    2330 Post St, 
    San Francisco, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Hind Al Saif is a Medical Genetics specialist and a Pediatrics provider in San Francisco, California. Dr. Al Saif and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Oculocutaneous Albinism, Pompe Disease, Danon Disease, and Maple Syrup Urine Disease.

    Showing 1-20 of 109

    Last Updated: 05/01/2025

    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 near me?

    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 near me?

    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 near me?

    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 near me?

    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 near me?

    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 near me?

    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 near me?

    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