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    Last Updated: 06/27/2025

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    MediFind found 8 doctor with experience in CLN1 Disease near Maryland, US. Of these, 7 are Experienced and 1 are Advanced.

    Location
    LocationClose
    8 providers found
      Advanced in CLN1 Disease
      Medical Genetics | Pediatrics
      Advanced in CLN1 Disease
      Medical Genetics | Pediatrics
      10 Center Dr, 10-crc, Room 5-2571, 
      Bethesda, MD 
      Languages Spoken:
      English

      Forbes Porter is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Porter and is rated as an Advanced provider by MediFind in the treatment of CLN1 Disease. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

      Experienced in CLN1 Disease
      Neurology
      Experienced in CLN1 Disease
      Neurology
      187 Thomas Johnson Dr, Suite #3, 
      Frederick, MD 
      Languages Spoken:
      English

      Camilo Toro is a Neurologist in Frederick, Maryland. Dr. Toro and is rated as an Experienced provider by MediFind in the treatment of CLN1 Disease. His top areas of expertise are Chediak-Higashi Syndrome, Sandhoff Disease, Tay-Sachs Disease, Gangliosidosis, and Deep Brain Stimulation.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Experienced in CLN1 Disease
      Medical Genetics | Pediatrics
      Experienced in CLN1 Disease
      Medical Genetics | Pediatrics
      10 Center Drive Msc 1851, Bldg. 10, Room 10c-103, Nhgri, Nih, 
      Bethesda, MD 
      Languages Spoken:
      English

      William Gahl is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Gahl and is rated as an Experienced provider by MediFind in the treatment of CLN1 Disease. His top areas of expertise are Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.

      Learn about our expert tiers
      Experienced in CLN1 Disease
      Medical Genetics | Pediatrics
      Experienced in CLN1 Disease
      Medical Genetics | Pediatrics
      Bethesda, MD 
      Languages Spoken:
      English

      David Adams is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Adams and is rated as an Experienced provider by MediFind in the treatment of CLN1 Disease. His top areas of expertise are Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism Type 2, and Oculocutaneous Albinism.

      Experienced in CLN1 Disease
      Experienced in CLN1 Disease
      10 Center Dr, Nih/ninds/nib Bld10/rm5c103, 
      Bethesda, MD 
      Languages Spoken:
      English

      Bibiana Bielekova is a Neurologist in Bethesda, Maryland. Dr. Bielekova and is rated as an Experienced provider by MediFind in the treatment of CLN1 Disease. Her top areas of expertise are Multiple Sclerosis (MS), Stroke, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Primary Lateral Sclerosis.

      Experienced in CLN1 Disease
      Pediatrics | Medical Genetics
      Experienced in CLN1 Disease
      Pediatrics | Medical Genetics
      10 Center Dr, Building 10 Room 9d42, 
      Bethesda, MD 
      Languages Spoken:
      English

      Simona Bianconi is a Pediatrics specialist and a Medical Genetics provider in Bethesda, Maryland. Dr. Bianconi and is rated as an Experienced provider by MediFind in the treatment of CLN1 Disease. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, X-Linked Creatine Deficiency, Niemann-Pick Disease, and Reticulohistiocytoma.

      Experienced in CLN1 Disease
      Experienced in CLN1 Disease
      Bethesda, MD 
      Languages Spoken:
      English

      William Theodore is a Neurologist in Bethesda, Maryland. Dr. Theodore and is rated as an Experienced provider by MediFind in the treatment of CLN1 Disease. His top areas of expertise are Epilepsy, Seizures, Succinic Semialdehyde Dehydrogenase Deficiency, and Absence Seizure.

      Experienced in CLN1 Disease
      Experienced in CLN1 Disease

      Meritus Medical Center Inc

      11110 Medical Campus Rd, 
      Hagerstown, MD 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Jennifer Pritchard is a Neurologist in Hagerstown, Maryland. Dr. Pritchard and is rated as an Experienced provider by MediFind in the treatment of CLN1 Disease. Her top areas of expertise are Seizures, Memory Loss, Autosomal Dominant Partial Epilepsy with Auditory Features, and Epilepsy. Dr. Pritchard is currently accepting new patients.

      Showing 1-8 of 8

      Last Updated: 06/27/2025

      What is the definition of CLN1 Disease?

      CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.

      When should I see a CLN1 Disease doctor in Maryland, 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 CLN1 Disease doctor in Maryland, 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 CLN1 Disease doctors in Maryland, 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 CLN1 Disease doctors in Maryland, 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 CLN1 Disease doctor in Maryland, 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 CLN1 Disease doctor search results page. 

      Why is it important to get a second opinion from a different CLN1 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 CLN1 Disease doctor in Maryland, 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 CLN1 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 CLN1 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 CLN1 Disease doctors in Maryland, US?

      Look for the filter feature on the left side of the CLN1 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 CLN1 Disease doctor that offers video calls?

      Look for the filter feature on the left-side of the CLN1 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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