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
Interim Director of the Neuromuscular Program, Children's Hospital of Philadelphia
Medical Director of MDA Care Center, 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
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.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.
Keselman D, Seneviratne T, McCague S, Yum SW, Diamond T, Wittlieb-Weber CA, Small JC, Matesanz SE. : Safety and Early Treatment Outcomes following Delandistrogene Moxeparvovec Gene Therapy for Duchenne Muscular Dystrophy at a Single Center. Poster presentation at the MDA annual meeting Mar 2025.
Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM: TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain Page: 238-251, Jan 2025.
Cornett K, Menezes M, Donlevy G, Estilow T, McKay M, Eichinger K, Shy R, Muntoni F, Reilly M, Yum S, Moroni I. : MINIMAL CLINICALLY IMPORTANT DIFFERENCE (MCID) FOR THE CMT PEDIATRIC SCALE (CMTPEDS). JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 29: S192-192, Aug 2024.
Matesanz SE, Brigatti KW, Young M, Yum SW*, Strauss KA* (*co-senior authors): Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy: motor outcomes and serial muscle ultrasonography. Annals of Clinical and Translational Neurology 11(7): 1868-1878, July 2024.
Chaclas N, Hall C, Yum SW, Seeley M, Sankar WN: Hip Dysplasia in Patients with Charcot-Marie-Tooth Disease: Unraveling an Underrecognized Condition. Journal of the Pediatric Orthopaedic Society of North America July 2024.
Wu TT, Finkel RS, Siskind CE, Feely SM, Burns J, Reilly MM, Muntoni F, Milev E, Estilow OT, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. : Validation of the Parent‐Proxy Version of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Instrument for children aged 0–7 years. Journal of the Peripheral Nervous System 28(3): 382-389, Sept 2023.