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    Last Updated: 10/30/2025

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    MediFind found 26 doctor with experience in Pompe Disease near Missouri, US. Of these, 21 are Experienced, 3 are Advanced and 2 are Distinguished.

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    LocationClose
    26 providers found
      Richard J. Barohn
      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      The Curators Of The University Of Missouri

      1020 Hitt St, Neurology Clinic Univ Of M, 
      Columbia, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Richard Barohn is a Neurologist in Columbia, Missouri. Dr. Barohn is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Inclusion Body Myositis, Myasthenia Gravis, Myositis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Thymectomy. Dr. Barohn is currently accepting new patients.

      Alan Pestronk
      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      Center For Advanced Medicine

      4921 Parkview Place, Suite 6C, 
      Saint Louis, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Alan Pestronk is a Neurologist in Saint Louis, Missouri. Dr. Pestronk is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Dysferlinopathy, Miyoshi Myopathy, Pompe Disease, and Myasthenia Gravis. Dr. Pestronk is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Advanced in Pompe Disease
      Advanced in Pompe Disease

      Todd B Silverman MD LLC

      14825 N Outer 40 Rd, Suite 330 B, 
      Chesterfield, MO 
      Languages Spoken:
      English

      Richard Sommerville is a Neurologist in Chesterfield, Missouri. Dr. Sommerville is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are X-Linked Dominant Scapuloperoneal Myopathy, Danon Disease, Pompe Disease, Emery-Dreifuss Muscular Dystrophy, and Gastrostomy.

      Learn about our expert tiers
      Advanced in Pompe Disease
      Advanced in Pompe Disease
      402 N Keene St, Ste 101, 
      Columbia, MO 
      Languages Spoken:
      English

      Richard Hillman is a Pediatrics provider in Columbia, Missouri. Dr. Hillman is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Phenylketonuria (PKU), Pompe Disease, and Fabry Disease.

      Advanced in Pompe Disease
      Neurology
      Advanced in Pompe Disease
      Neurology

      Ssm Medical Group Inc

      1055 Bowles Ave, Suite 200, 
      Fenton, MO 
      Experience:
      16+ years
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Bassam Malo is a Neurologist in Fenton, Missouri. Dr. Malo has been practicing medicine for over 16 years and is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Migraine, Peripheral Neuropathy, Myasthenia Gravis, and VEXAS Syndrome. Dr. Malo is currently accepting new patients.

      Experienced in Pompe Disease
      Experienced in Pompe Disease

      Lake Regional Health System

      54 Hospital Dr, 
      Osage Beach, MO 
      Languages Spoken:
      English, Spanish
      Accepting New Patients
      Offers Telehealth

      Tania Beltran-Papsdorf is a Neurologist in Osage Beach, Missouri. Dr. Beltran-Papsdorf is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Myasthenia Gravis, Lewy Body Dementia (LBD), Spinal and Bulbar Muscular Atrophy, Transmyocardial Revascularization, and Stent Placement. Dr. Beltran-Papsdorf is currently accepting new patients.

      Experienced in Pompe Disease
      Family Medicine
      Experienced in Pompe Disease
      Family Medicine
      216 N Main St, 
      Nevada, MO 
      Experience:
      43+ years
      Languages Spoken:
      English
      Accepting New Patients

      Russell Kemm is a primary care provider, practicing in Family Medicine in Nevada, Missouri. Dr. Kemm has been practicing medicine for over 43 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Chronic Obstructive Pulmonary Disease (COPD), Perianal Streptococcal Cellulitis, Type 2 Diabetes (T2D), and Lung Metastases. Dr. Kemm is currently accepting new patients.

      Experienced in Pompe Disease
      Pediatrics | Medical Genetics
      Experienced in Pompe Disease
      Pediatrics | Medical Genetics

      The Childrens Mercy Hospital

      2401 Gillham Rd, 
      Kansas City, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Jennifer Gannon is a Pediatrics specialist and a Medical Genetics provider in Kansas City, Missouri. Dr. Gannon is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, and Propionic Acidemia. Dr. Gannon is currently accepting new patients.

      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      Experienced in Pompe Disease
      Medical Genetics | Pediatrics

      Ssm Health Care Group

      10101 Woodfield Ln, 
      Saint Louis, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Stephen Braddock is a Medical Genetics specialist and a Pediatrics provider in Saint Louis, Missouri. Dr. Braddock is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Chromosome 20 Trisomy, Coloboma, Cerebellar Hypoplasia, and CHARGE Syndrome. Dr. Braddock is currently accepting new patients.

      Experienced in Pompe Disease
      Internal Medicine
      Experienced in Pompe Disease
      Internal Medicine

      Med Clinical Practice LLC

      401 Corporate Park Dr, 
      Clayton, MO 
      Languages Spoken:
      English

      Abdul Rauf is a primary care provider, practicing in Internal Medicine in Clayton, Missouri. Dr. Rauf is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Multisystem Inflammatory Syndrome in Children (MIS-C), Myofibrillar Myopathy, Primary Amebic Meningoencephalitis, and Congenital Cardiovascular Shunt.

      Experienced in Pompe Disease
      Pediatric Neurology | Neurology
      Experienced in Pompe Disease
      Pediatric Neurology | Neurology

      Washington University

      4455 Duncan Ave, 
      Saint Louis, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Craig Zaidman is a Pediatric Neurologist and a Neurologist in Saint Louis, Missouri. Dr. Zaidman is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Spinal Muscular Atrophy (SMA), and Primary Lateral Sclerosis. Dr. Zaidman is currently accepting new patients.

      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      Experienced in Pompe Disease
      Medical Genetics | Pediatrics

      Washington University

      1 Childrens Pl, 
      Saint Louis, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Maria Duque-Lasio is a Medical Genetics specialist and a Pediatrics provider in Saint Louis, Missouri. Dr. Duque-Lasio is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, Fabry Disease, and Williams Syndrome. Dr. Duque-Lasio is currently accepting new patients.

      Experienced in Pompe Disease
      Family Medicine
      Experienced in Pompe Disease
      Family Medicine

      Mercy Clinic East Communities

      1820 Zumbehl Rd, Suite 120, 
      Saint Charles, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Michael Houser is a primary care provider, practicing in Family Medicine in Saint Charles, Missouri. Dr. Houser is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Sitosterolemia, Type 2 Diabetes (T2D), Hypertension, and Familial Hypertension. Dr. Houser is currently accepting new patients.

      Experienced in Pompe Disease
      Internal Medicine
      Experienced in Pompe Disease
      Internal Medicine

      University Health Physicians

      2301 Holmes St, 
      Kansas City, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Anthony Makovec is a primary care provider, practicing in Internal Medicine in Kansas City, Missouri. Dr. Makovec is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Pompe Disease. Dr. Makovec is currently accepting new patients.

      Experienced in Pompe Disease
      Pulmonary Medicine | Anesthesiology | Intensive Care Medicine
      Experienced in Pompe Disease
      Pulmonary Medicine | Anesthesiology | Intensive Care Medicine

      Washington University

      1 Barnes Jewish Hospital Plz, 
      Saint Louis, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Soophia Naydenov is a Pulmonary Medicine specialist and an Anesthesiologist in Saint Louis, Missouri. Dr. Naydenov is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pneumonia, Stridor, Lung Metastases, Thrombectomy, and Endoscopy. Dr. Naydenov is currently accepting new patients.

      Experienced in Pompe Disease
      Family Medicine
      Experienced in Pompe Disease
      Family Medicine

      Robbins Family Healthcare LLC

      115 S Wood Ave, 
      Fredericktown, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Michael Robbins is a primary care provider, practicing in Family Medicine in Fredericktown, Missouri. Dr. Robbins is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Acute Cystitis, Emphysema, Cirrhosis, and Bullae. Dr. Robbins is currently accepting new patients.

      Experienced in Pompe Disease
      Experienced in Pompe Disease

      Washington University

      4921 Parkview Pl, Suite 6c, 
      Saint Louis, MO 
      Languages Spoken:
      English, Arabic
      Accepting New Patients

      Muhammad Al-Lozi is a Neurologist in Saint Louis, Missouri. Dr. Al-Lozi is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Myotonia Congenita, Myasthenia Gravis, Peripheral Neuropathy, Spinal and Bulbar Muscular Atrophy, and Gastrostomy. Dr. Al-Lozi is currently accepting new patients.

      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      Experienced in Pompe Disease
      Medical Genetics | Pediatrics

      Washington University

      1 Childrens Pl, 
      Saint Louis, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Dorothy Grange is a Medical Genetics specialist and a Pediatrics provider in Saint Louis, Missouri. Dr. Grange is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Phenylketonuria (PKU), Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias. Dr. Grange is currently accepting new patients.

      Experienced in Pompe Disease
      Neonatology | Pediatrics | Emergency Medicine
      Experienced in Pompe Disease
      Neonatology | Pediatrics | Emergency Medicine
      1 Childrens Pl, Div Ped Newborn Medicine, 
      Saint Louis, MO 
      Languages Spoken:
      English
      Accepting New Patients

      Luke Viehl is a Neonatologist and a Pediatrics provider in Saint Louis, Missouri. Dr. Viehl is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Cerebral Hypoxia, Hypotonia, Gastrointestinal Bleeding, and Intraventricular Hemorrhage of the Newborn. Dr. Viehl is currently accepting new patients.

      Experienced in Pompe Disease
      Neonatology | Pediatrics
      Experienced in Pompe Disease
      Neonatology | Pediatrics
      1 Childrens Pl, Div Ped Newborn Medicine, 
      Saint Louis, MO 
      Languages Spoken:
      English

      Halana Whitehead is a Neonatologist and a Pediatrics provider in Saint Louis, Missouri. Dr. Whitehead is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Premature Infant, Intraventricular Hemorrhage of the Newborn, Cerebral Hypoxia, and Anemia.

      Showing 1-20 of 26

      Last Updated: 10/30/2025

      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 in Missouri, 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 Missouri, 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 Missouri, 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 Missouri, 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 Missouri, 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 Missouri, 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 Missouri, 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 

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