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

Find the Top Pompe Disease Experts and Specialists

The 20 Best Pompe Disease Doctors in Pennsylvania, US

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.

    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.

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    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.

    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.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Phoenixville Hospital

    140 Nutt Road, 
    Phoenixville, PA 
    Languages Spoken:
    English
    Offers Telehealth

    . Dr. Malhotra is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Stroke, Multicentric Reticulohistiocytosis, Transient Ischemic Attack (TIA), Thrombectomy, and Stent Placement.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Delaware Valley Community Health, Inc

    1412 Fairmount Ave, Fairmont Primary Care Center, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Martinez is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Delayed Growth, Vitamin D Deficiency, Obesity in Children, and Autism Spectrum Disorder.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

    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.

    Advanced in Pompe Disease
    Advanced in Pompe Disease

    Penn State Health Medical Group-Hope Drive Radiology

    30 Hope Dr, 
    Hershey, PA 
    Languages Spoken:
    English

    Sankar Bandyopadhyay is a Neurologist in Hershey, Pennsylvania. Dr. Bandyopadhyay is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Myasthenia Gravis, Congenital Fiber-Type Disproportion, Benign Autosomal Dominant Myopathy, and Tubular Aggregate Myopathy.

    David Lacomis
    Experienced in Pompe Disease
    Neuromusculoskeletal Medicine
    Experienced in Pompe Disease
    Neuromusculoskeletal Medicine

    UPMC Department Of Neurology

    3471 5th Avenue, Suite 810, 
    Pittsburgh, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    David Lacomis, MD, is a neurologist and is certified in neurology, clinical neurophysiology, and neuromusculoskeletal medicine by the American Board of Psychiatry and Neurology. He is chief of the Division of Neuromuscular Diseases and director of clinical research for the Live Like Lou Center of ALS Research. He is also a professor of Neurology and Pathology at the University of Pittsburgh School of Medicine. He received his medical degree from Penn State College of Medicine and completed his residency at Brigham and Women’s Hospital, followed by his fellowship at the University of Massachusetts Medical Center. Dr. Lacomis is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Myasthenia Gravis, Primary Lateral Sclerosis, Lambert-Eaton Syndrome, and Thymectomy.

    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.

    Mathieu Cuchanski
    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Geisinger Wyoming Valley Medical Office Building - Neurophysiology

    950 East Mountain Boulevard, 
    Wilkes Barre, PA 
    Languages Spoken:
    English

    Mathieu Cuchanski, DO, is a neurologist who specializes in treating people with neuromuscular diseases such as peripheral neuropathy, myopathy, muscular dystrophy and myasthenia gravis. He also treats people for a rare neurological disease called amyotrophic lateral sclerosis.|Originally from Bucks County, Pa., Dr. Cuchanski moved to this area to be close to family. “I also moved here because I really enjoyed the relationships I developed while I was a resident in training at Geisinger,” he says.|Dr. Cuchanski earned his Doctor of Osteopathic Medicine degree from the Philadelphia College of Osteopathic Medicine. He completed his general adult neurology residency at Geisinger Medical Center and a fellowship in neuromuscular medicine at the Cleveland Clinic. In his spare time, he enjoys cooking, cycling and spending time with his friends and family. Dr. Cuchanski is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Sensorimotor Polyneuropathy, Pompe Disease, Danon Disease, and Paraplegia.

    Apurva V. Vyas
    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, Gujarati , Hindi

    Philosophy of care | The opportunity to care for patients is a privilege. My goal is to provide compassionate, patient-centered care that is both evidence-based and individualized to fit each specific person's unique situation. I aim to treat patients in the same way I would treat my own family. | Why I entered medicine | I became interested in medicine as a hospital volunteer during my early teens, seeing doctor-patient relationships and being able to connect with patients during vulnerable times. Medicine allowed me to connect interests of both humanities and sciences. The opportunity to take care of patients in both preventative and therapeutic capacities is both challenging and satisfying. | Personal interests | I spend time with family and friends. Dr. Vyas is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Heart Attack, Cardiogenic Shock, Apoplexy, Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR).

    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.

    Sharlene M. Day
    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Penn Heart And Vascular Center

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

    Sharlene Day is a Cardiologist in Philadelphia, Pennsylvania. Dr. Day is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Orchiectomy, and Heart Transplant. Dr. Day is currently accepting new patients.

    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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