The 20 Best Pompe Disease Doctors Near Me

Find the Top Pompe Disease Experts and Specialists

The 20 Best Pompe Disease Doctors Near Me

Last Updated: 02/22/2026

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MediFind found 3921 doctor with experience in Pompe Disease. Of these, 3439 are Experienced, 349 are Advanced, 95 are Distinguished and 31 are Elite.

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3,921 providers found
    Elite in Pompe Disease
    Elite in Pompe Disease

    Duke Health Integrated Practice Inc

    40 Duke Medicine Cir, 
    Durham, NC 
    Languages Spoken:
    English
    Accepting New Patients

    Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.

    Mazen M. Dimachkie
    Elite in Pompe Disease
    Elite in Pompe Disease

    Clinical Research Center

    4350 Shawnee Mission Parkway, 
    Fairway, KS 
    Experience:
    38+ years
    Languages Spoken:
    English, Arabic, French
    Accepting New Patients
    Offers Telehealth

    Mazen Dimachkie is a Neurologist in Fairway, Kansas. Dr. Dimachkie has been practicing medicine for over 38 years and is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Myositis, Inclusion Body Myositis, Myasthenia Gravis, Thymectomy, and Tissue Biopsy. Dr. Dimachkie is currently accepting new patients.

    Shafeeq S. Ladha
    Elite in Pompe Disease
    Neuromusculoskeletal Medicine | Neurology
    Elite in Pompe Disease
    Neuromusculoskeletal Medicine | Neurology

    Barrow Neuromuscular, MS, MDA, Neuro Ophthalmology

    240 W Thomas Rd, Ste 400, 
    Phoenix, AZ 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    My mission, along with the St. Joseph Medical Group, is to focus on innovative clinical care and the pursuit of excellence through scholarly activities. This allows me to provide patients with state-of-the-art patient services and exceptional patient experiences. Dr. Ladha is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, and Spinal Muscular Atrophy (SMA).

    Learn about our expert tiers
    Dwight D. Koeberl
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Elite in Pompe Disease
    Medical Genetics | Pediatrics

    Duke University Hospital

    2301 Erwin Rd, 
    Durham, NC 
    Languages Spoken:
    English
    Offers Telehealth

    My practice includes caring for children and adults with inherited conditions, such as inherited disorders of metabolism, genetic syndromes, mitochondrial disorders, inherited causes of growth failure or developmental delay, and conditions detected by newborn screening. My clinic works with the Pediatric Biochemical Genetics Laboratory to diagnose these conditions. We provide treatment for inherited disorders of metabolism. I work closely with the geneticists, neurologists, pediatricians, internists, and other providers at Duke University Medical Center to provide comprehensive care for my patients. My research has been aimed at developing new treatments for inherited conditions, focusing on glycogen storage diseases, like Pompe disease and von Gierke disease. We have developed gene therapy for these conditions and are in the process of starting clinical trials to test safety and benefits. Dr. Koeberl is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome.

    Raymond Y. Wang
    Elite in Pompe Disease
    Medical Genetics
    Elite in Pompe Disease
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English

    Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

    Paula R. Clemens
    Elite in Pompe Disease
    Neuromusculoskeletal Medicine
    Elite in Pompe Disease
    Neuromusculoskeletal Medicine

    UPMC Department Of Neurology

    3471 5th Avenue, Suite 810, 
    Pittsburgh, PA 
    Languages Spoken:
    English

    Paula Clemens, MD, is a neurologist certified by the American Board of Psychiatry and Neurology. She is chief of the Division of Veterans Affairs and a professor of Neurology, Molecular Genetics and Biochemistry, Human Genetics, and Pediatrics at the University of Pittsburgh School of Medicine. She received her medical degree from the Medical College of Pennsylvania and completed her residency at Dartmouth-Hitchcock Medical Center, followed by a neuromuscular fellowship at Mayo Clinic and a molecular genetics fellowship at Baylor College of Medicine. Dr. Clemens is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Pompe Disease, and Myotonic Dystrophy.

    Mei-tsi B. Lawing
    Advanced in Pompe Disease
    Family Medicine
    Advanced in Pompe Disease
    Family Medicine

    Atrium Health Primary Care One Health Family Medicine Reese Blvd.

    13620 Reese Blvd., E., Suite 125, 
    Huntersville, NC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Mei-tsi Lawing is a primary care provider, practicing in Family Medicine in Huntersville, North Carolina. Dr. Lawing is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Danon Disease, Pompe Disease, Transient Global Amnesia, and Type 2 Diabetes (T2D). Dr. Lawing is currently accepting new patients.

    Elite in Pompe Disease
    Pediatric Cardiology | Pediatrics
    Elite in Pompe Disease
    Pediatric Cardiology | Pediatrics
    1600 Sw Archer Rd, 
    Gainesville, FL 
    Languages Spoken:
    English
    Accepting New Patients

    Barry Byrne is a Pediatric Cardiologist and 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. Dr. Byrne is currently accepting new patients in some locations.

    Elite in Pompe Disease
    Elite in Pompe Disease

    UC Irvine Medical Center

    200 S Manchester Ave Ste 110, 
    Orange, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Tahseen Mozaffar is a Neurologist in Orange, California. Dr. Mozaffar is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Inclusion Body Myositis, Myositis, Myasthenia Gravis, and Thymectomy.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Messina, IT 

    Antonio Toscano practices in Messina, Italy. Mr. Toscano is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Myoglobinuria Recurrent, Rhabdomyolysis, Thrombectomy, and Transcatheter Aortic Valve Replacement (TAVR).

    Elite in Pompe Disease
    Elite in Pompe Disease
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Jordi Manera-Diaz practices in Newcastle Upon Tyne, United Kingdom. Manera-Diaz is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Pompe Disease, Dysferlinopathy, Limb-Girdle Muscular Dystrophy, and Delta-Sarcoglycanopathy.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Rotterdam, ZH, NL 

    Ans Van Der Ploeg-Van Der Graaf practices in Rotterdam, Netherlands. Van Der Ploeg-Van Der Graaf is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Their top areas of expertise are Pompe Disease, Mucolipidosis Type 4, Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Pancreaticoduodenectomy, and Hepato-Pancreato-Biliary Surgery.

    Elite in Pompe Disease
    Elite in Pompe Disease
    4 Centre De Référence De Pathologie Neuromusculaire Paris Est, 
    Paris, FR 

    Pascal Laforet practices in Paris, France. Mr. Laforet is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Rhabdomyolysis, Myotonic Dystrophy, and Thymectomy.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Messina, IT 

    Olimpia Musumeci practices in Messina, Italy. Ms. Musumeci is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Rhabdomyolysis, Myoglobinuria Recurrent, and Progressive External Ophthalmoplegia.

    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 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).

    Elite in Pompe Disease
    Pediatrics | General Practice
    Elite in Pompe Disease
    Pediatrics | General Practice
    11212 Waples Mill Rd, Suite 103, 
    Fairfax, VA 
    Languages Spoken:
    English, Spanish, Turkish
    Accepting New Patients

    Ozlem Goker-Alpan is a primary care provider, a Pediatrics specialist and a General Practice provider in Fairfax, Virginia. Dr. Goker-Alpan is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Gaucher Disease, Fabry Disease, Gaucher Disease Type 1, Gaucher Disease Type 3, and Splenectomy. Dr. Goker-Alpan is currently accepting new patients.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Padova, IT 

    Corrado Angelini practices in Padova, Italy. Mr. Angelini is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Limb-Girdle Muscular Dystrophy, Myotonic Dystrophy, Myotonic Dystrophy Type 2, Paramyotonia Congenita, and Heart Transplant.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Munich, BY, DE 

    Benedikt Schoser practices in Munich, Germany. Mr. Schoser is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Myotonic Dystrophy Type 2, Myotonic Dystrophy, Paramyotonia Congenita, Pompe Disease, and Thymectomy.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Evry, FR 

    Federico Mingozzi practices in Evry, France. Mr. Mingozzi is rated as an Elite expert by MediFind in the treatment of Pompe Disease. His top areas of expertise are Crigler-Najjar Syndrome, Rotor Syndrome, Pompe Disease, Hemophilia B, and Liver Transplant.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Pavia, IT 

    Sabrina Ravaglia practices in Pavia, Italy. Ms. Ravaglia is rated as an Elite expert by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Guillain-Barre Syndrome, Mitochondrial Complex 3 Deficiency, and Cramp-Fasciculation Syndrome.

    Showing 1-20 of 3,921

    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 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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