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    Last Updated: 02/22/2026

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    MediFind found 60 doctor with experience in Pompe Disease near Pennsylvania, US. Of these, 40 are Experienced, 7 are Advanced, 6 are Distinguished and 1 are Elite.

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    60 providers found
      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.

      Aileen L. Love
      Distinguished in Pompe Disease
      Intensive Care Medicine | Sleep Medicine | Pulmonary Medicine
      Distinguished in Pompe Disease
      Intensive Care Medicine | Sleep Medicine | Pulmonary Medicine

      LVPG Pulmonary And Critical Care Medicine-Tower Place

      1490 8th Ave., Suite 220, 
      Bethlehem, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Aileen Love is an Intensive Care Medicine specialist and a Sleep Medicine provider in Bethlehem, Pennsylvania. Dr. Love is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Obstructive Sleep Apnea, Lung Metastases, and Interstitial Lung Disease.

      Cheri A. Fadlon
      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      LVH Cardiology-1250 Cedar Crest

      1250 S Cedar Crest Blvd, Suite 300, 
      Allentown, PA 
      Languages Spoken:
      English

      Cheri Fadlon is a Cardiologist in Allentown, Pennsylvania. Dr. Fadlon is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Heart Failure with Preserved Ejection Fraction (HFpEF), Pompe Disease, Danon Disease, and Ectopic Heartbeat.

      Learn about our expert tiers
      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      Perelman Center For Advanced Medicine South Pavilion, 2nd Floor

      3400 Civic Center Boulevard, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Chafic Karam is a Neurologist in Philadelphia, Pennsylvania. Dr. Karam is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Transthyretin Amyloidosis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, Tissue Biopsy, and Laminectomy. Dr. Karam is currently accepting new patients.

      Jay D. Varrato
      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      LVH Neurology-1250 Cedar Crest

      1250 S Cedar Crest Blvd, Suite 405, 
      Allentown, PA 
      Languages Spoken:
      English

      Jay Varrato is a Neurologist in Allentown, Pennsylvania. Dr. Varrato is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Danon Disease, Pompe Disease, Epilepsy, and Myasthenia Gravis.

      John W. Peters
      Advanced in Pompe Disease
      Family Medicine
      Advanced in Pompe Disease
      Family Medicine

      LVPG Family Medicine-Trexlertown

      6900 Hamilton Blvd, PO Box 127, 
      Trexlertown, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Philosophy of care | I emphasize preventive medicine and making patients an active participant in their health care. Seeing the results of treatment plans succeed and improve patients' quality of life is the most enjoyable part of my job. | Why I entered medicine | I was always fascinated by the function of the human body and its ability to maintain and restore health. | Personal interests | I enjoy spending time with my family, exercising and outdoor recreation. Dr. Peters is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Danon Disease, Pompe Disease, Bronchitis, and Tenosynovitis.

      Distinguished in Pompe Disease
      Medical Genetics | Pediatrics | Physiatry
      Distinguished in Pompe Disease
      Medical Genetics | Pediatrics | Physiatry

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Classic Galactosemia, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Urea Cycle Disorders (UCD), and Galactose Epimerase Deficiency.

      Distinguished in Pompe Disease
      Pulmonary Medicine | Intensive Care Medicine
      Distinguished in Pompe Disease
      Pulmonary Medicine | Intensive Care Medicine
      3400 Spruce St, 3 Ravdin Building, Suite F, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Yasmine Wasfi is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Philadelphia, Pennsylvania. Dr. Wasfi is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Plaque Psoriasis, and Pulmonary Alveolar Proteinosis.

      Advanced in Pompe Disease
      Advanced in Pompe Disease

      Penn Neuroscience Center - Neurology

      3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Paul Mcintosh is a Neurologist in Philadelphia, Pennsylvania. Dr. Mcintosh is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Foot Drop, Peripheral Neuropathy, and Facioscapulohumeral Muscular Dystrophy (FSHD). Dr. Mcintosh is currently accepting new patients.

      Advanced in Pompe Disease
      Neurology
      Advanced in Pompe Disease
      Neurology

      Penn Neuroscience Center - Neurology

      3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Colin Quinn is a Neurologist in Philadelphia, Pennsylvania. Dr. Quinn is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Inclusion Body Myositis, Progressive Hemifacial Atrophy, and Gastrostomy. Dr. Quinn is currently accepting new patients.

      Eric Veloso
      Experienced in Pompe Disease
      Neuromusculoskeletal Medicine | Neurology
      Experienced in Pompe Disease
      Neuromusculoskeletal Medicine | Neurology

      Geisinger Scranton - Neurology

      3 West Olive Street, Suite 132, 
      Scranton, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Eric Veloso, MD, is a neurologist who specializes in treating peripheral nerve or muscular disease. He also performs EMG testing, single fiber EMG and neuromuscular ultrasounds.|Dr. Veloso earned his medical degree from at the Cooper Medical School of Rowan University in Camden, NJ. He followed this with a residency in neurology at Geisinger Medical Center and a neuromuscular fellowship at Massachusetts General Hospital and Brigham and Women’s Hospital in Boston.|He’s an active member of multiple professional organizations including the American Academy of Neurology and American Association of Neuromuscular & Electrodiagnostic Medicine.|Dr. Veloso is an accomplished researcher, teacher and presenter. He has volunteered in his community as an after-school reading tutor for underprivileged children. He has also served as a volunteer EMT. Additionally, he did an international service trip to Belize, where he worked with local medical clinics.|In his spare time, Dr. Veloso enjoys surfing, golf, skiing, exercising, hiking and camping, and showing off his musical talents on the bagpipes and bass guitar. Dr. Veloso is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Dystrophinopathy, Spinal and Bulbar Muscular Atrophy, Spinal Muscular Atrophy Type 3, and Peripheral Neuropathy.

      Yasotha Rajeswaran
      Experienced in Pompe Disease
      Experienced in Pompe Disease

      LVH Cardiology-1250 Cedar Crest

      1250 S Cedar Crest Blvd, Suite 300, 
      Allentown, PA 
      Languages Spoken:
      English, Tamil

      Yasotha Rajeswaran is a Cardiologist in Allentown, Pennsylvania. Dr. Rajeswaran is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Atrial Fibrillation, His Bundle Tachycardia, Paroxysmal Supraventricular Tachycardia (PSVT), Cardiac Ablation, and Pacemaker Implantation.

      Bruce A. Feldman
      Experienced in Pompe Disease
      Experienced in Pompe Disease

      LVH Cardiology-1250 Cedar Crest

      1250 S Cedar Crest Blvd, Suite 300, 
      Allentown, PA 
      Languages Spoken:
      English

      Bruce Feldman is a Cardiologist in Allentown, Pennsylvania. Dr. Feldman is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Arrhythmias, Heart Failure, Heart Attack, Pacemaker Implantation, and Cardiac Ablation.

      Arshad A. Wani
      Pulmonary Medicine | Sleep Medicine
      Pulmonary Medicine | Sleep Medicine

      Harron Lung Center University City

      3737 Market Street, 10th Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Arshad Wani is a Sleep Medicine specialist and a Pulmonary Medicine provider in Philadelphia, Pennsylvania. Dr. Wani is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Simple Pulmonary Eosinophilia, Eosinophilic Pneumonia, Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), and Gastrostomy. Dr. Wani is currently accepting new patients.

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

      Penn Personalized Care - Rosemary Kearney, MD

      800 Walnut Street, 17th Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Rosemary Kearney is a primary care provider, practicing in Internal Medicine in Philadelphia, Pennsylvania. Dr. Kearney is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Enlarged Prostate (BPH), Chronic Cough, Danon Disease, and Pompe Disease.

      Experienced in Pompe Disease
      Neurology
      Experienced in Pompe Disease
      Neurology

      Temple University Hospital

      3401 N Broad St, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Jin Luo is a Neurologist in Philadelphia, Pennsylvania. Dr. Luo is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Brown-Sequard Syndrome, Gaucher Disease, Gaucher Disease Type 2, and Gaucher Disease Type 3.

      Experienced in Pompe Disease
      Pulmonary Medicine
      Experienced in Pompe Disease
      Pulmonary Medicine

      Harron Lung Center Perelman

      3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Mary Porteous is a Pulmonary Medicine provider in Philadelphia, Pennsylvania. Dr. Porteous is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Acute Interstitial Pneumonia, Interstitial Lung Disease, Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, and Lung Transplant. Dr. Porteous is currently accepting new patients.

      Experienced in Pompe Disease
      Sleep Medicine
      Experienced in Pompe Disease
      Sleep Medicine

      Penn Sleep Center Market Street

      3624 Market Street, Suite 201, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Jorge Mora is a Sleep Medicine provider in Philadelphia, Pennsylvania. Dr. Mora is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Obstructive Sleep Apnea, Central Sleep Apnea, Drowsiness, and Excessive Daytime Sleepiness. Dr. Mora is currently accepting new patients.

      Experienced in Pompe Disease
      Pediatric Cardiology
      Experienced in Pompe Disease
      Pediatric Cardiology

      Office

      3401 Civic Center Blvd, 
      Philadelphia,, PA 
      Languages Spoken:
      English

      Kimberly Lin is a Pediatric Cardiologist in Philadelphia,, Pennsylvania. Dr. Lin is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pediatric Myocarditis, Congenital Heart Disease (CHD), Cardiomyopathy, Heart Transplant, and Spinal Fusion.

      Experienced in Pompe Disease
      Pediatric Cardiology
      Experienced in Pompe Disease
      Pediatric Cardiology

      Office

      3401 Civic Center Blvd, 
      Philadelphia,, PA 
      Languages Spoken:
      English

      Laura Rosa is a Pediatric Cardiologist in Philadelphia,, Pennsylvania. Dr. Rosa is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Mitral Atresia, Hypoplastic Left Heart Syndrome (HLHS), Situs Inversus, and Dextrocardia with Situs Inversus.

      Showing 1-20 of 60

      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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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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