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

Find the Top Pompe Disease Experts and Specialists

The 20 Best Pompe Disease Doctors in Missouri, US

Last Updated: 02/22/2026

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MediFind found 21 doctor with experience in Pompe Disease near Missouri, US. Of these, 17 are Experienced, 3 are Advanced and 1 are Distinguished.

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21 providers found
    Alan Pestronk
    Distinguished in Pompe Disease
    Distinguished in Pompe Disease

    Office

    4921 Parkview Pl Ste 6C, 
    Saint Louis, MO 
    Languages Spoken:
    English

    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.

    Bassam Malo
    Advanced in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Advanced in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine

    SSM Health Neurosciences

    1055 Bowles Ave., 
    Fenton, MO 
    Languages Spoken:
    English

    "Bassam Malo, MD, is board certified in neurology, electrodiagnostic medicine, neuromuscular medicine and neuromuscular pathology. He specializes in performing nerve conduction studies and managing nerve and muscle diseases (like carpal tunnel syndrome, neuropathies, myopathies, muscular dystrophies, myasthenia gravis, and ALS). He also has interests in treating spinal cord diseases and Parkinson's disease. Dr. Malo earned his medical degree from the University of Aleppo in Syria. He completed his neurology residency program at Saint Louis University School of Medicine where he was the chief resident during the 2013-14 academic year. He completed his fellowship in neuromuscular medicine at Washington University in St. Louis. Dr. Malo has been in practice since 2010. He treats patients 12 years of age and older, and is fluent in English, French and Arabic. ""My practice objectives focus on the three pillars of excellence: availability, affability and ability. These principles allow me to find the causes behind my patients' conditions and provide them with the best care for their specific disease. Seeing successful results will always be my favorite reward.""". Dr. Malo 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.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Washington University

    660 S Euclid Ave, 
    Saint Louis, MO 
    Languages Spoken:
    English

    Craig Zaidman is 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.

    Learn about our expert tiers
    Experienced in Pompe Disease
    Intensive Care Medicine
    Experienced in Pompe Disease
    Intensive Care Medicine

    SSM-Sluh Inc.

    1225 S Grand Blvd, 
    Saint Louis, MO 
    Languages Spoken:
    English

    Soophia Naydenov is an Intensive Care Medicine provider 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.

    Advanced in Pompe Disease
    Advanced in Pompe Disease

    Washington University

    660 S Euclid Ave, 
    Saint Louis, MO 
    Languages Spoken:
    English

    Richard Sommerville is a Neurologist in Saint Louis, 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, Emery-Dreifuss Muscular Dystrophy, Pompe Disease, Danon Disease, and Gastrostomy.

    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.

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

    Medical Genetics At SSM Health Cardinal Glennon Children's Hospital

    1465 S. Grand Blvd., 
    St. Louis, MO 
    Languages Spoken:
    English

    Dr. Stephen Braddock provides genetic evaluations, diagnoses, and counseling for patients of all ages. This includes services not exclusive to pediatric patients, but also prenatal counseling, cancer counseling, and adult genetic disorders. He specializes in delineation of new multiple malformation syndromes, dysmorphology, prevalence and variation of prenatal teratogen exposures and birth defects, and fetal alcohol syndrome. His research interests include teratology, fetal alcohol syndrome, and dysmorphology/syndrome delineation. Dr. Braddock is director of medical genetics and a professor in the Department of Pediatrics, Division of Medical Genetics, at Saint Louis University School of Medicine. He is a fellow of the American College of Medical Genetics and Genomics, and the American Academy of Pediatrics. He is a member of the American Society of Human Genetics, the Teratology Society, and the Organization of Teratogen Information Services. Dr. Braddock is a sports history/trivia buff, particularly baseball history. He owns two Babe Ruth baseball cards. 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, Cerebellar Hypoplasia, CHARGE Syndrome, and Coloboma.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Lake Regional Health System

    54 Hospital Dr, 
    Osage Beach, MO 
    Languages Spoken:
    English
    Offers Telehealth

    Tania Beltran is a Neurologist in Osage Beach, Missouri. Dr. Beltran 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.

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

    Ccmh Medical Mall Clinic

    1317 S State Highway 32, 
    El Dorado Springs, MO 
    Languages Spoken:
    English

    Russell Kemm is a primary care provider, practicing in Family Medicine in El Dorado Springs, Missouri. Dr. Kemm 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.

    Experienced in Pompe Disease
    Pediatrics | Medical Genetics
    Experienced in Pompe Disease
    Pediatrics | Medical Genetics
    2401 Gillham Rd, 
    Kansas City, MO 
    Languages Spoken:
    English

    Laurie Smith is a Pediatrics specialist and a Medical Genetics provider in Kansas City, Missouri. Dr. Smith is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Farber Lipogranulomatosis, and Pompe Disease.

    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

    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
    1820 Zumbehl Road, Suite 130B, 
    St. Charles, MO 
    Languages Spoken:
    English
    Offers Telehealth

    Michael Houser is a primary care provider, practicing in Family Medicine in St. 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), Glucocorticoid-Remediable Aldosteronism, and Hypertension.

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

    University Health Truman Medical Center

    2301 Holmes St, 
    Kansas City, MO 
    Languages Spoken:
    English

    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 Hypertension, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, and Danon Disease.

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

    Robbins Family Healthcare LLC

    355 N Chamber Dr, 
    Fredericktown, MO 
    Languages Spoken:
    English

    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.

    Experienced in Pompe Disease
    Neurology
    Experienced in Pompe Disease
    Neurology

    Office

    4921 Parkview Pl Ste 6C, 
    Saint Louis, MO 
    Languages Spoken:
    English

    Muhammad Al is a Neurologist in Saint Louis, Missouri. Dr. Al 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.

    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

    St. Louis Children's Hospital

    1 Childrens Pl, 
    Saint Louis, MO 
    Languages Spoken:
    English

    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, Premature Infant, Hypotonia, and Gastrointestinal Bleeding.

    Experienced in Pompe Disease
    Neonatology | Pediatrics
    Experienced in Pompe Disease
    Neonatology | Pediatrics

    Office

    1 Childrens Pl Ste 8116, 
    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.

    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, Vietnamese
    Accepting New Patients

    Hoanh Nguyen is a Medical Genetics specialist and a Pediatrics provider in Saint Louis, Missouri. Dr. Nguyen is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Genetic Epilepsy with Febrile Seizures Plus (GEFS+), Hypotonia, and Pompe Disease. Dr. Nguyen is currently accepting new patients.

    Showing 1-20 of 21

    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 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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