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    Last Updated: 01/09/2026

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    MediFind found 4 doctor with experience in X-Linked Infantile Spinal Muscular Atrophy near Maryland, US. Of these, 2 are Advanced and 2 are Experienced.

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    4 providers found
      Charlotte J. Sumner
      Advanced in X-Linked Infantile Spinal Muscular Atrophy
      Neuromusculoskeletal Medicine
      Advanced in X-Linked Infantile Spinal Muscular Atrophy
      Neuromusculoskeletal Medicine

      Johns Hopkins Outpatient Center

      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Charlotte Sumner is a Professor of Neurology and Neuroscience at Johns Hopkins University School of Medicine. Dr. Sumner cares for patients with genetically-mediated neuromuscular diseases. Her practice is notable for a focus on individuals with inherited neuromuscular disorders of peripheral nerves and motor neurons, including spinal muscular atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease. She co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy (SMA), and the Charcot-Marie-Tooth (CMT) clinics, which deliver multidisciplinary clinical care, engage in international natural history studies, and provide cutting edge therapeutics. Dr. Sumner’s research focuses on developing treatments for degenerative disorders of motor neurons and peripheral nerves. Her laboratory uses human tissues and induced pluripotent cell lines, mouse models and cultured cells to characterize disease mechanisms and develop treatments. Dr. Charlotte Sumner received her medical degree from the University of Pennsylvania School of Medicine following undergraduate studies at Princeton University. She completed internal medicine internship and neurology residency at the University of California San Francisco, after which she returned to the east coast for a neuromuscular fellowship at Johns Hopkins and a neurogenetics fellowship in the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke. She joined the neurology faculty at Johns Hopkins in 2006. Dr. Sumner is rated as an Advanced provider by MediFind in the treatment of X-Linked Infantile Spinal Muscular Atrophy. Her top areas of expertise are Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth Disease, Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 2, and Gastrostomy.

      Thomas O. Crawford
      Advanced in X-Linked Infantile Spinal Muscular Atrophy
      Neurology | Pediatric Neurology
      Advanced in X-Linked Infantile Spinal Muscular Atrophy
      Neurology | Pediatric Neurology

      Johns Hopkins Outpatient Center

      601 North Caroline Street, Floor 5, Floor 5, 
      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Tom Crawford has been a member of the Department of Neurology since 1987. He is co-director of the MDA clinic for Neuromuscular Disorders and Neurologist for the Ataxia Telangiectasia Clinical Center at Johns Hopkins. His practice involves general child neurology with a principal interest in caring for children with neuromuscular, neuromotor, and ataxic disorders. Primary research interests involve the basic science and clinical characterization of two important neurologic disorders that affect children: Spinal Muscular Atrophy and Ataxia Telangiectasia. He is also actively involved in the Biology of neurofilaments by characterization of transgenic animal models. He is on the Medical and Scientific Advisory Boards of Families of Spinal Muscular Atrophy, and the Medical Advisory Committee for the Muscular Dystrophy Association. He is the Neurologist for the Ataxia Telangiectasia Clinical Center at Johns Hopkins, which has evaluated almost half of the known patients with this disorder in the United States. Additional specific clinical interests include evaluation and treatment of children with brachial plexus palsies. Dr. Crawford received his medical degree from the University of Southern California. He completed a pediatric internship and residency at the Pediatric Pavilion of the Los Angeles County / University of Southern California Medical Center, followed by a pediatric chief residency. He completed his training in Neurology with Special Qualification in Child Neurology at the Los Angeles Childrens Hospital. He then traveled east to the laboratory of Dr John Griffin at Johns Hopkins for a fellowship in Neuromuscular Disorders. Prior to medical training and Neurology residency, he majored in Psychology and Religion at Yale College. Dr. Crawford has published extensively and presented nationally and internationally. He has an active role in teaching medical students and residents in neurology. In addition, Dr. Crawford has special interest and experience in EMG studies of children and adults. Dr. Crawford is rated as an Advanced provider by MediFind in the treatment of X-Linked Infantile Spinal Muscular Atrophy. His top areas of expertise are Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), Ataxia-Telangiectasia, and Spinal Muscular Atrophy Type 2.

      Doris G. Leung
      Experienced in X-Linked Infantile Spinal Muscular Atrophy
      Experienced in X-Linked Infantile Spinal Muscular Atrophy

      Kennedy Krieger Institute

      1741 Ashland Avenue, Room 847, Room 847, 
      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Leung obtained her undergraduate degree in biochemical sciences from Harvard University. While attending medical school at Duke University, she completed a year-long research fellowship studying genetic markers of late-onset Alzheimer’s disease at the National Institute on Aging as part of the NIH Clinical Research Training Program. She completed her neurology residency and clinical neurophysiology fellowship at Stanford University Medical Center, and is currently a Ph.D. candidate in the graduate training program in clinical investigation at the Johns Hopkins Bloomberg School of Public Health. Dr. Leung joined the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute as a translational research fellow in 2010 and was appointed to the faculty in 2014. Her clinic specializes in electromyography and the diagnosis and treatment of hereditary muscle diseases. Dr. Leung’s research focuses on the development of imaging biomarkers and outcome measures for muscle diseases. She is the principal investigator for a longitudinal cohort study of whole-body MRI in facioscapulohumeral muscular dystrophy. Dr. Leung is also a site principal investigator for the Ionis-DMPKRx trial, a phase Ib/IIa clinical trial of a novel RNA-based therapy for myotonic muscular dystrophy. Dr. Leung is rated as an Experienced provider by MediFind in the treatment of X-Linked Infantile Spinal Muscular Atrophy. Her top areas of expertise are Facioscapulohumeral Muscular Dystrophy (FSHD), Dysferlinopathy, Limb-Girdle Muscular Dystrophy Type 2I, and Limb-Girdle Muscular Dystrophy.

      Learn about our expert tiers
      Experienced in X-Linked Infantile Spinal Muscular Atrophy
      Experienced in X-Linked Infantile Spinal Muscular Atrophy
      600 N Wolfe St, 
      Baltimore, MD 
      Languages Spoken:
      English

      Kathryn Wagner is a Neurologist in Baltimore, Maryland. Dr. Wagner is rated as an Experienced provider by MediFind in the treatment of X-Linked Infantile Spinal Muscular Atrophy. Her top areas of expertise are Limb-Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 1B, Limb-Girdle Muscular Dystrophy Type 1A, and Limb-Girdle Muscular Dystrophy Type 2I.

      Showing 1-4 of 4

      Last Updated: 01/09/2026

      What is the definition of X-Linked Infantile Spinal Muscular Atrophy?

      X-linked infantile spinal muscular atrophy is a condition that affects only boys and is characterized by severe muscle weakness and absent reflexes (areflexia). Affected children often have multiple joint deformities (contractures) from birth that cause joint stiffness (arthrogryposis) and impair movement. In severe cases, affected infants are born with broken bones. The muscle weakness worsens over time; affected children reach some early motor developmental milestones, such as sitting unassisted, but these skills are often lost (developmental regression).

      When should I see a X-Linked Infantile Spinal Muscular Atrophy 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 X-Linked Infantile Spinal Muscular Atrophy 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 X-Linked Infantile Spinal Muscular Atrophy 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 X-Linked Infantile Spinal Muscular Atrophy 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 X-Linked Infantile Spinal Muscular Atrophy 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 X-Linked Infantile Spinal Muscular Atrophy doctor search results page. 

      Why is it important to get a second opinion from a different X-Linked Infantile Spinal Muscular Atrophy 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 X-Linked Infantile Spinal Muscular Atrophy 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 X-Linked Infantile Spinal Muscular Atrophy 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 X-Linked Infantile Spinal Muscular Atrophy 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 X-Linked Infantile Spinal Muscular Atrophy doctors in Maryland, US?

      Look for the filter feature on the left side of the X-Linked Infantile Spinal Muscular Atrophy 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 X-Linked Infantile Spinal Muscular Atrophy doctor that offers video calls?

      Look for the filter feature on the left-side of the X-Linked Infantile Spinal Muscular Atrophy 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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