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Sabrina W. Yum, M.D.
44Professor of Clinical Neurology
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Attending Neurologist, Children's Hospital of Philadelphia
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Clinical Director, CMTA Center of Excellence , Children's Hospital of Philadelphia
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co-Director, Brachial Plexus Injury Program, Children's Hospital of Philadelphia
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Interim Director of the Neuromuscular Program, Children's Hospital of Philadelphia
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Medical Director of MDA Care Center, Children's Hospital of Philadelphia
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Department: Neurology
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Contact information
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CTRB Rm10008
3e 3501 Civic Center Boulevard
Philadelphia, PA 19104
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3e 3501 Civic Center Boulevard
Philadelphia, PA 19104
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Office: 215-590-1719
32 Fax: 215-590-1771
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32 Fax: 215-590-1771
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Education:
21 9 M.D. 15 (Medicine) c
32 Guangzhou Medical College, 1983.
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21 9 M.D. 15 (Medicine) c
32 Guangzhou Medical College, 1983.
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Post-Graduate Training
24 a4 Postdoctoral Research Fellow, Center for Neural Injury, University of California, San Francisco/Veterans Administration Medical Center, 1985-1989.
24 76 Intern in Pediatrics , Albert Einstein College of Medicine/Montefiore Medical Center, NY, 1989-1990.
24 77 Resident in Pediatrics, Albert Einstein College of Medicine/Montefiore Medical Center, NY, 1990-1992.
24 7f Fellow in Pediatric Neurology, Dept. of Neurology at Johns Hopkins University School of Medicine , 1992-1995.
24 78 Fellow in Neuromuscular Diseases and EMG, Dept. of Neurology at University of Pennsylvania, 1995-1996.
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24 a4 Postdoctoral Research Fellow, Center for Neural Injury, University of California, San Francisco/Veterans Administration Medical Center, 1985-1989.
24 76 Intern in Pediatrics , Albert Einstein College of Medicine/Montefiore Medical Center, NY, 1989-1990.
24 77 Resident in Pediatrics, Albert Einstein College of Medicine/Montefiore Medical Center, NY, 1990-1992.
24 7f Fellow in Pediatric Neurology, Dept. of Neurology at Johns Hopkins University School of Medicine , 1992-1995.
24 78 Fellow in Neuromuscular Diseases and EMG, Dept. of Neurology at University of Pennsylvania, 1995-1996.
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Certifications
28 59 USA Educational Commission for Foreign Medical Graduate Certificate ( No. 405-021-7) 16 , 1987.
28 42 American Board of Pediatrics (No. 052501), 1993.
28 7d American Board of Psychiatry and Neurology, with special qualification in child neurology (No. 1065), 1997.
28 7f American Board of Psychiatry and Neurology, in the subspecialty of clinical Neurophysiology (No. 1211), 1999.
28 68 American Board of Psychiatry and Neurology, in the subspecialty of Neuromuscular Medicine (No. 626) 16 , 2012.
28 8f American Board of Psychiatry and Neurology, with special qualification in Child Neurology (No. 1065), re-certification, 2018.
28 7d American Board of Psychiatry and Neurology, in the subspecialty of clinical Neurophysiology (No. 1211), re-certification 16 , 2020.
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Permanent link28 59 USA Educational Commission for Foreign Medical Graduate Certificate ( No. 405-021-7) 16 , 1987.
28 42 American Board of Pediatrics (No. 052501), 1993.
28 7d American Board of Psychiatry and Neurology, with special qualification in child neurology (No. 1065), 1997.
28 7f American Board of Psychiatry and Neurology, in the subspecialty of clinical Neurophysiology (No. 1211), 1999.
28 68 American Board of Psychiatry and Neurology, in the subspecialty of Neuromuscular Medicine (No. 626) 16 , 2012.
28 8f American Board of Psychiatry and Neurology, with special qualification in Child Neurology (No. 1065), re-certification, 2018.
28 7d American Board of Psychiatry and Neurology, in the subspecialty of clinical Neurophysiology (No. 1211), re-certification 16 , 2020.
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39 The role of neurofilaments in axonal degeneration
23 Charcot-Marie-Tooth disease
1a Muscular Dystrophy
29 Pediatric neuromuscular disorders
3a clinical trials in pediatric neuromuscular diseases
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86 Pediatric Neuromuscular diseases including SMA, DMD, BMD, LGMD, congenital myopathies, congenital myasthenic syndrome, GBS etc
24 Gene therapy for SMA and DMD
23 Charcot-Marie-Tooth disease
28 Brachial plexopathy, Erb's palsy
26 Nerve conduction study and EMG
19 Muscle ultrasound
4a BOTOX injection for patients with movement disorders and spasticity
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Description of Research Expertise
79 Biology and pathogenesis of connexin mutations associated with Charcot-Marie-Tooth disease, hearing loss39 The role of neurofilaments in axonal degeneration
23 Charcot-Marie-Tooth disease
1a Muscular Dystrophy
29 Pediatric neuromuscular disorders
3a clinical trials in pediatric neuromuscular diseases
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Description of Clinical Expertise
24 Pediatric Neurology86 Pediatric Neuromuscular diseases including SMA, DMD, BMD, LGMD, congenital myopathies, congenital myasthenic syndrome, GBS etc
24 Gene therapy for SMA and DMD
23 Charcot-Marie-Tooth disease
28 Brachial plexopathy, Erb's palsy
26 Nerve conduction study and EMG
19 Muscle ultrasound
4a BOTOX injection for patients with movement disorders and spasticity
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161 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.
15d 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.
21b 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.
172 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.
142 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.
17b 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.
16e 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.
126 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.
1d7 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.
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Selected Publications
181 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 2025.161 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.
15d 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.
21b 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.
172 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.
142 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.
17b 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.
16e 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.
126 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.
1d7 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.
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