The 20 Best Pompe Disease Doctors Near Me in CT, ES

Find the Top Pompe Disease Experts and Specialists

Last Updated: 11/08/2026

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MediFind found 47 doctor with experience in Pompe Disease near CT, ES. Of these, 36 are Experienced and 11 are Advanced.

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47 providers found
    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Bellaterra, CT, ES 

    Isabel Illa practices practicing medicine in Bellaterra, Spain. Ms. Illa is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Chronic Inflammatory Demyelinating Polyneuropathy, Chronic Polyradiculoneuritis, Myasthenia Gravis, Pompe Disease, and Thymectomy.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Izaskun Belmonte practices practicing medicine in Barcelona, Spain. Belmonte is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses Pompe Disease, Dysferlinopathy, and Limb-Girdle Muscular Dystrophy.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Claudia Peralta-Nunez practices practicing medicine in Barcelona, Spain. Ms. Peralta-Nunez is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Pompe Disease, Stormorken Syndrome, Cushing's syndrome, and Glycogen Storage Disease Type 5.

    Learn about our expert tiers
    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Andres Nascimento practices practicing medicine in Barcelona, Spain. Mr. Nascimento is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Thymidine Kinase 2 Deficiency (TK2d), and Cramp-Fasciculation Syndrome.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Jaume Llauger practices practicing medicine in Barcelona, Spain. Llauger is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 4 other conditions, according to our data. Their clinical expertise encompasses Pompe Disease, Hypertrichosis-Acromegaloid Facial Appearance Syndrome, Acromegaloid Facial Appearance Syndrome, and Acromegaly.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Irene Pedrosa practices practicing medicine in Barcelona, Spain. Ms. Pedrosa is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Pompe Disease, Dysferlinopathy, and Limb-Girdle Muscular Dystrophy.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Montse Olive practices practicing medicine in Barcelona, Spain. Ms. Olive is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses X-Linked Myotubular Myopathy, Congenital Fiber-Type Disproportion, Tubular Aggregate Myopathy, and Myofibrillar Myopathy.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Jose Milisenda practices practicing medicine in Barcelona, Spain. Mr. Milisenda is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Myositis, Polymyositis, Dermatomyositis, and Inclusion Body Myositis.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Ana Rozas-Carrasco practices practicing medicine in Barcelona, Spain. Ms. Rozas-Carrasco is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Pompe Disease, Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Dysferlinopathy.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Xavier Calvet-Suarez practices practicing medicine in Barcelona, Spain. Mr. Calvet-Suarez is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Dermatomyositis, Polymyositis, and Becker Muscular Dystrophy.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    David Leiva-Reyes practices practicing medicine in Barcelona, Spain. Mr. Leiva-Reyes is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Pompe Disease, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Primary Lateral Sclerosis.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Avda. Gran Via 199-203, 
    Barcelona, CT, ES 

    Francesc Bosch practices practicing medicine in Barcelona, Spain. Ms. Bosch is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Chronic Lymphocytic Leukemia (CLL), Chronic B-Cell Leukemia (CBCL), Human Papillomavirus Infection, Leukemia, and Bone Marrow Transplant.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Josep Grau-Cano practices practicing medicine in Barcelona, Spain. Grau-Cano is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 7 other conditions, according to our data. Their clinical expertise encompasses Myositis, Polymyositis, Dermatomyositis, and Vasculitis.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Bellaterra, CT, ES 

    Veronica Jimenez practices practicing medicine in Bellaterra, Spain. Ms. Jimenez is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Obesity, Type 2 Diabetes (T2D), Type 1 Diabetes (T1D), and Pompe Disease.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Barcelona Science Park, 
    Barcelona, CT, ES 

    Noemi De Luna practices practicing medicine in Barcelona, Spain. Ms. De Luna is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Glycogen Storage Disease Type 5, Myoglobinuria Recurrent, Rhabdomyolysis, and Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease).

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Luis Querol practices practicing medicine in Barcelona, Spain. Mr. Querol is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Chronic Inflammatory Demyelinating Polyneuropathy, Chronic Polyradiculoneuritis, Guillain-Barre Syndrome, Multifocal Motor Neuropathy, and Thymectomy.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Badalona, CT, ES 

    Alba Fransi-Ramos practices practicing medicine in Badalona, Spain. Ms. Fransi-Ramos is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Myotonic Dystrophy Type 2, Myotonic Dystrophy, Paramyotonia Congenita, Thrombectomy, and Thymectomy.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Jordi Lopez-Perez practices practicing medicine in Barcelona, Spain. Lopez-Perez is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 4 other conditions, according to our data. Their clinical expertise encompasses Gaucher Disease Type 1, Mucopolysaccharidoses (MPS), Gaucher Disease, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Barcelona, CT, ES 

    Josep Grau-Junyent practices practicing medicine in Barcelona, Spain. Mr. Grau-Junyent is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Myositis, Antisynthetase Syndrome, Polymyositis, and Dermatomyositis.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Bellaterra, CT, ES 

    Jesus Ruberte practices practicing medicine in Bellaterra, Spain. Mr. Ruberte is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Coloboma of Optic Nerve, Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), and Ganglion Cyst.

    While we make every effort to provide the best results possible, data is currently limited outside of the United States. Doctors listed may include both clinicians and researchers, and individuals relocate frequently. We recommend contacting doctors directly to confirm their location and areas of focus. Contact information is provided when available. Learn more about our expert tiers.
    Showing 1-20 of 47

    Last Updated: 11/08/2026

    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 CT, ES?

    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 CT, ES?

    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 do I find the best Pompe Disease doctor in CT, ES?

    You can find a Pompe Disease doctor in any of the 10 largest U.S. cities by clicking below:

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    How does MediFind rank Pompe Disease doctors in CT, ES?

    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 CT, ES?

    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 CT, ES?

    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 CT, ES?

    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 CT, ES?

    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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