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    Last Updated: 03/06/2025

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    Learn about our doctor expertise tiers.
    If you have a rare or serious condition, you may want to seek advice from the best doctor you can find.
    In most cases, seeking advice from top-tier doctors may not be necessary.
    Elite
    • Global leaders in their field
    • Publish in medical journals frequently
    • Speak at conferences
    • Participate in clinical trials
    • Likely to work with cutting edge treatments
    • Likely to hold leadership positions in their organization
    Distinguished
    • Leaders in their field
    • Strong research portfolio
    • Likely to work with cutting edge treatments
    • Likely to be a leader in their field regionally
    Advanced
    • Excellent at diagnosing and treating conditions.
    • Treat many patients and have extensive experience in their field.
    • May not publish, speak at conferences, or participate in clinical trials.
    Experienced
    • Primarily treat patients rather than focus on research.
    • May be specialists or primary care physicians.
    • Have great experience in diagnosing and treating conditions.
    • Majority of doctors fall within this level of expertise.
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    MediFind found 27 doctor with experience in Pompe Disease. Of these, 19 are Experienced, 7 are Advanced and 1 are Distinguished.

    Location:
    Paris, TN, US
    27 providers found

    Washington University - Neuromuscular Disease Center

    660 S Euclid Ave, Box 8111, 
    St. Louis, MO 
     (193.0 mi)
    Languages Spoken:
    English
    Offers Telehealth

    Alan Pestronk is a Neurologist in St. Louis, MO. Dr. Pestronk and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Dysferlinopathy, Myositis, Pompe Disease, and Miyoshi Myopathy.

    Pulmonary Medicine
    Pulmonary Medicine
    1724 Kenton St, 1b, 
    Hopkinsville, KY 
     (60.1 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Manoj Majmudar is a Pulmonary Medicine provider in Hopkinsville, Kentucky. Dr. Majmudar and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Chronic Obstructive Pulmonary Disease (COPD), Lung Metastases, Pneumonia, Gastrostomy, and Hip Replacement. Dr. Majmudar is currently accepting new patients.

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

    Vanderbilt University Medical Center

    1301 Medical Ctr Dr, 
    Nashville, TN 
     (85.7 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    John Phillips is a Medical Genetics specialist and a Pediatrics provider in Nashville, Tennessee. Dr. Phillips and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Achondroplasia, Pompe Disease, Danon Disease, and Corpus Callosum Agenesis. Dr. Phillips is currently accepting new patients.

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    Vanderbilt University Medical Center

    1301 Medical Ctr Dr, 
    Nashville, TN 
     (85.7 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Christopher Lee is a Neurologist in Nashville, Tennessee. Dr. Lee and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Myasthenia Gravis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Guillain-Barre Syndrome, Miller-Fisher Syndrome, and Gamma Knife Radiosurgery. Dr. Lee is currently accepting new patients.

    Vanderbilt University Medical Center

    1301 Medical Ctr Dr, 
    Nashville, TN 
     (85.7 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Quinn Wells is a Cardiologist in Nashville, Tennessee. Dr. Wells and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Cardiomyopathy, Heart Failure, Hypertrophic Cardiomyopathy (HCM), Heart Transplant, and Cardiac Ablation. Dr. Wells is currently accepting new patients.

    Melissa A. Warren
    Pulmonary Medicine | Intensive Care Medicine
    Pulmonary Medicine | Intensive Care Medicine

    Vanderbilt University Medical Center

    1301 22nd Ave S, 
    Nashville, TN 
     (85.7 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Melissa Warren is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Nashville, Tennessee. Dr. Warren and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Bronchogenic Cyst, Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), and Lung Nodules. Dr. Warren is currently accepting new patients.

    Neurology | Neurosurgery
    Neurology | Neurosurgery

    Vanderbilt University Medical Center

    1211 Medical Ctr Dr, 
    Nashville, TN 
     (85.7 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Amanda Peltier is a Neurologist and a Neurosurgery provider in Nashville, Tennessee. Dr. Peltier and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Orthostatic Hypotension, Low Blood Pressure, Familial Dysautonomia, Lambert-Eaton Syndrome, and Tissue Biopsy. Dr. Peltier is currently accepting new patients.

    James R. Sheller
    Sleep Medicine | Pulmonary Medicine
    Sleep Medicine | Pulmonary Medicine
    Nashville, TN 
     (86.5 mi)
    Languages Spoken:
    English

    James Sheller is a Sleep Medicine specialist and a Pulmonary Medicine provider in Nashville, Tennessee. Dr. Sheller and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Obstructive Sleep Apnea, Lung Metastases, Bronchiectasis, Endoscopy, and Gastrostomy.

    Baptist Health Medical Group Inc

    2603 Kentucky Ave, Suite 403, 
    Paducah, KY 
     (51.1 mi)
    Languages Spoken:
    English
    Accepting New Patients

    Samantha Dial is a Neurologist in Paducah, Kentucky. Dr. Dial and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Stroke, Memory Loss, Peripheral Neuropathy, and Transient Ischemic Attack (TIA). Dr. Dial is currently accepting new patients.

    Internal Medicine
    Internal Medicine
    1324 W Main St, 
    Franklin, TN 
     (84.8 mi)
    Languages Spoken:
    English
    Accepting New Patients

    Mohammad Hossain is an Internal Medicine provider in Franklin, Tennessee. Dr. Hossain and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are CACH Syndrome, Anhidrosis, Fabry Disease, Riboflavin Transporter Deficiency Neuronopathy, and Tissue Biopsy. Dr. Hossain is currently accepting new patients.

    Nashville, TN 
     (86.5 mi)
    Languages Spoken:
    English

    Peter Donofrio is a Neurologist in Nashville, Tennessee. Dr. Donofrio and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Chronic Inflammatory Demyelinating Polyneuropathy, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Myasthenia Gravis, and Chronic Polyradiculoneuritis.

    Nashville, TN 
     (86.5 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Allen Naftilan is a Cardiologist in Nashville, Tennessee. Dr. Naftilan and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Heart Failure, Pulmonary Edema, Heart Failure with Preserved Ejection Fraction (HFpEF), Cardiac Ablation, and Pacemaker Implantation. Dr. Naftilan is currently accepting new patients.

    Family Medicine
    Family Medicine

    Rural Health, Inc.

    513 N Main St, 
    Anna, IL 
     (95.1 mi)
    Languages Spoken:
    English
    Accepting New Patients

    William Ribbing is a Family Medicine provider in Anna, Illinois. Dr. Ribbing and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Lung Metastases, Buerger Disease, Generalized Anxiety Disorder (GAD), and Candida Infection of the Skin. Dr. Ribbing is currently accepting new patients.

    North Mississippi Clinics LLC

    830 S Gloster St, 
    Tupelo, MS 
     (144.0 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    James Johnson is a Cardiologist in Tupelo, Mississippi. Dr. Johnson and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Mitral Valve Regurgitation, Coronary Heart Disease, Angina, and Atherosclerosis. Dr. Johnson is currently accepting new patients.

    Neurology
    Neurology

    Ssm Medical Group Inc

    1055 Bowles Ave, Suite 200, 
    Fenton, MO 
     (193.8 mi)
    Languages Spoken:
    English
    Accepting New Patients

    Bassam Malo is a Neurologist in Fenton, Missouri. Dr. Malo and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Migraine, Peripheral Neuropathy, Orthostatic Hypotension, and Myasthenia Gravis. Dr. Malo is currently accepting new patients.

    Neurology | Psychiatry
    Neurology | Psychiatry

    Baptist Health Medical Group Inc

    3900 Kresge Way, Suite 56, 
    Louisville, KY 
     (199.3 mi)
    Languages Spoken:
    English
    Accepting New Patients

    Greg Smith is a Neurologist and a Psychiatrist in Louisville, Kentucky. Dr. Smith and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Distal Median Nerve Dysfunction, Peripheral Neuropathy, Pompe Disease, and Danon Disease. Dr. Smith is currently accepting new patients.

    Pulmonary Medicine
    Pulmonary Medicine
    1111 S Raleigh Ave, Ste 600, 
    Sheffield, AL 
     (112.9 mi)
    Languages Spoken:
    English
    Accepting New Patients

    Laurence Carmichael is a Pulmonary Medicine provider in Sheffield, Alabama. Dr. Carmichael and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Obstructive Sleep Apnea, Pompe Disease, Periodic Limb Movement Disorder, and Grass Allergy. Dr. Carmichael is currently accepting new patients.

    Pediatric Neurology | Pediatrics | Neurology
    Pediatric Neurology | Pediatrics | Neurology
    262 Danny Thomas Pl, 
    Memphis, TN 
     (124.8 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Richard Finkel is a Pediatric Neurologist and a Pediatrics provider in Memphis, Tennessee. Dr. Finkel and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 3, and Spinal Muscular Atrophy Type 2. Dr. Finkel is currently accepting new patients.

    North Mississippi Clinics LLC

    499 Gloster Creek Vlg, Suite A2, 
    Tupelo, MS 
     (143.3 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Michael Boler is a Cardiologist in Tupelo, Mississippi. Dr. Boler and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Mitral Valve Regurgitation, Angina, Arterial Insufficiency, and Atrial Fibrillation. Dr. Boler is currently accepting new patients.

    North Mississippi Clinics LLC

    499 Gloster Creek Vlg, Suite A2, 
    Tupelo, MS 
     (143.3 mi)
    Experience:
    21+ years
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    William Carroll is a Cardiologist in Tupelo, Mississippi. Dr. Carroll has been practicing medicine for over 21 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Mitral Valve Regurgitation, Angina, Coronary Heart Disease, and Metabolic Syndrome. Dr. Carroll is currently accepting new patients.

    Showing 1-20 of 27

    Last Updated: 03/06/2025

    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 

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