Sabrina W. Yum, M.D.
Professor of Clinical Neurology
Attending Neurologist, Children's Hospital of Philadelphia
Clinical Director, CMTA Center of Excellence , Children's Hospital of Philadelphia
co-Director, Brachial Plexus Injury Program, Children's Hospital of Philadelphia
Medical Director of MDA Care Center, Children's Hospital of Philadelphia
Program Director, Neuromuscular Fellowship, Children's Hospital of Philadelphia
Chief, Neuromuscular Section, Children's Hospital of Philadelphia
Department: Neurology
Contact information
CTRB Rm10008
3501 Civic Center Boulevard
Philadelphia, PA 19104
3501 Civic Center Boulevard
Philadelphia, PA 19104
Office: 215-590-1719
Fax: 215-590-1771
Fax: 215-590-1771
Education
M.D. (Medicine)
Guangzhou Medical College, 1983.
M.D. (Medicine)
Guangzhou Medical College, 1983.
Post-Graduate Training
Postdoctoral Research Fellow, Center for Neural Injury, University of California, San Francisco/Veterans Administration Medical Center, 1985-1989.
Intern in Pediatrics , Albert Einstein College of Medicine/Montefiore Medical Center, NY, 1989-1990.
Resident in Pediatrics, Albert Einstein College of Medicine/Montefiore Medical Center, NY, 1990-1992.
Fellow in Pediatric Neurology, Dept. of Neurology at Johns Hopkins University School of Medicine , 1992-1995.
Fellow in Neuromuscular Diseases and EMG, Dept. of Neurology at University of Pennsylvania, 1995-1996.
Postdoctoral Research Fellow, Center for Neural Injury, University of California, San Francisco/Veterans Administration Medical Center, 1985-1989.
Intern in Pediatrics , Albert Einstein College of Medicine/Montefiore Medical Center, NY, 1989-1990.
Resident in Pediatrics, Albert Einstein College of Medicine/Montefiore Medical Center, NY, 1990-1992.
Fellow in Pediatric Neurology, Dept. of Neurology at Johns Hopkins University School of Medicine , 1992-1995.
Fellow in Neuromuscular Diseases and EMG, Dept. of Neurology at University of Pennsylvania, 1995-1996.
Certifications
USA Educational Commission for Foreign Medical Graduate Certificate ( No. 405-021-7) , 1987.
American Board of Pediatrics (No. 052501), 1993.
American Board of Psychiatry and Neurology, with special qualification in child neurology (No. 1065), 1997.
American Board of Psychiatry and Neurology, in the subspecialty of clinical Neurophysiology (No. 1211), 1999.
American Board of Psychiatry and Neurology, in the subspecialty of Neuromuscular Medicine (No. 626) , 2012.
American Board of Psychiatry and Neurology, with special qualification in Child Neurology (No. 1065), re-certification, 2018.
American Board of Psychiatry and Neurology, in the subspecialty of clinical Neurophysiology (No. 1211), re-certification , 2020.
Permanent linkUSA Educational Commission for Foreign Medical Graduate Certificate ( No. 405-021-7) , 1987.
American Board of Pediatrics (No. 052501), 1993.
American Board of Psychiatry and Neurology, with special qualification in child neurology (No. 1065), 1997.
American Board of Psychiatry and Neurology, in the subspecialty of clinical Neurophysiology (No. 1211), 1999.
American Board of Psychiatry and Neurology, in the subspecialty of Neuromuscular Medicine (No. 626) , 2012.
American Board of Psychiatry and Neurology, with special qualification in Child Neurology (No. 1065), re-certification, 2018.
American Board of Psychiatry and Neurology, in the subspecialty of clinical Neurophysiology (No. 1211), re-certification , 2020.
Description of Research Expertise
Biology and pathogenesis of connexin mutations associated with Charcot-Marie-Tooth disease, hearing lossThe role of neurofilaments in axonal degeneration
Charcot-Marie-Tooth disease
Muscular Dystrophy
Pediatric neuromuscular disorders
clinical trials in pediatric neuromuscular diseases
Description of Clinical Expertise
Pediatric NeurologyPediatric Neuromuscular diseases including SMA, DMD, BMD, LGMD, congenital myopathies, congenital myasthenic syndrome, GBS etc
Gene therapy for SMA and DMD
Charcot-Marie-Tooth disease
Brachial plexopathy, Erb's palsy
Nerve conduction study and EMG
Muscle ultrasound
BOTOX injection for patients with movement disorders and spasticity
Selected Publications
Samelson-Jones BJ, Martos-Rus C, Yrigollen CM, Tecedor L, Small JC, Matesanz SE, Watson CT, Vanden Heuvel AR, Carrig S, Yum SW, Brandsema JF ... George LA. : Cardiotoxic Effects and Microdystrophin Expression after Gene Therapy for DMD. New England Journal of Medicine 22, July 2026.Ward KS, Ptak CP, Pashkova N, Grider T, Peterson TA, Pareyson D, Pisciotta C, Saveri P, Moroni I, Laura M, Burns J, Menezes MP, Cornett K, Finkel R, Mukherjee-Clavin B, Sumner CJ, Greene M, Abdul Hamid O, Herrmann D, Sadjadi R, Walk D, Züchner S, Reilly MM, Scherer SS; Inherited Neuropathy Consortium; Piper RC, Shy ME.: Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants. Brain 149(3): 1070-1085, Mar 2026.
Keselman DJ, Small JC, Seneviratne T, McCague S, Kaschak TL, Yum SW, O’Brien A, Brandsema JF, Diamond T, Loomes KM, Lin KY,...George LA: Real-world outcomes of delandistrogene moxeparvovec gene therapy: Motor outcomes and emerging safety concerns. Molecular Therapy. 34(1): 123-30, Jan 2026.
Dharia S, Batley K, Yum SW, Jin J, Hu W, Khan S: rAAVrh74 total binding antibodies seroprevalence and antibody titers over time in patients with DMD and LGMD. MOLECULAR THERAPY. CELL PRESS, 34(5): 1631-1633, 2026 Notes: Presented in ASGCT 2026.
McAnally MM, Potticary A, Hayes LH, Clayton J, Haliloglu G, Donkervoort S, Yang M, Gibbons M, Gross B, Matesanz S, Medne L. : ACTA1-related cardiomyopathy: emerging genotypic and phenotypic patterns among patients with ACTA1-related myopathy with cardiac involvement. ANNALS OF NEUROLOGY 96: S127-S127, Nov 2025.
Lagrant S, Keselman D, Press C, Yum S: Acute-Onset Altered Mental Status as a Presentation of Charcot-Marie-Tooth Type 1X. NNALS OF NEUROLOGY 98, Oct 2025.
Crawford TO, Servais L, Mercuri E, Kölbel H, Kuntz N, Finkel RS, Krueger J, Batley K, Young SD, Marantz JL, Song G, Yum S... : Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial. The Lancet Neurology 24(9): 727-39, Sep 2025.
Keselman D, Cohen A, Thelen MY, Prosser LA, PhD, Estilow T, Glanzman A, Yum SW: Long term functional Outcomes in Patients with Spinal Muscular Atrophy Receiving Different Disease-Modifying Therapies – a single center experience. Poster presentation at CureSMA 2025 June 2025.
Glanzman AM, Riggio B, Cullen A, Gardner M, Leiberman R, Brandsema J, Zolkipli Cunningham Z, Prosser LA, Yum SW, Matesanz SE: Association between the CHOP INTEND, TIMPSi, and AIMS in those with SMA identified by newborn screening. Poster presentation at CureSMA June 2025.
Monica Marzouk, Gabrielle A. Donlevy, Joshua Burns, Manoj P. Menezes, Sindu Ramchandren, Francesco Muntoni, Mary M. Reilly, Rosemary Shy, Sabrina Yum, Richard Finkel, Gyula Acsadi, David Herrmann, John Day, Steve Scherer, Michael E. Shy, Marnee J. McKay* and Kayla M.D. Cornett*. (*Joint senior author): Prevalence and Impact of Patient-reported Tiredness as a Proxy of Fatigue in Pediatric Charcot-Marie-Tooth disease. presented at the annual PNS meeting May 2025.