Russell J. Butterfield
( out of 10 reviews )

Russell J. Butterfield, MD, PhD

Languages spoken: English, Modern Greek

Clinical Locations

Clinical Neurosciences Center

Salt Lake City
801-585-7575

Eccles Primary Children's Outpatient Services Building

Salt Lake City
801-213-3599

Shriners Hospital for Children

Pediatric Neurology
Salt Lake City
801-536-3500

St. George Specialty Clinic at Richens Eye Center

Specialized Neurology Clinic
St. George
801-585-7575

  • Russell Butterfield, MD, PhD received his PhD in mammalian genetics, and medical degree from the University of Illinois. He completed his residency training in pediatric neurology at the University of Utah in June 2009. He is currently an Associate Professor in the Departments of Neurology and Pediatrics, after completing a fellowship in neuromuscular disorders sponsored by the Muscular Dystrophy Association. Dr. Butterfield is board certified in Neurology with special qualification in child neurology. Dr. Butterfield’s clinical interests include all types of neurogenetic and neuromuscular disorders with an emphasis on muscular dystrophies of childhood onset. His research interests are in understanding genetic aspects of these disorders. His current efforts are in characterization of genotype/phenotype relationships and molecular pathogenesis in collagen VI myopathies such as Bethlem myopathy and Ullrich congenital muscular dystrophy.

    Specialties

    Board Certification

    American Board of Pediatrics (Pediatrics)
    American Board of Psychiatry & Neurology (Special Qualification in Child Neurology)

    Patient Rating

    5.0 /5
    ( out of 10 reviews )

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    Patient Comments

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    Patients are de-identified for confidentiality and patient privacy.

    August 09, 2023
    CLINICAL NEUROSCIENCES CENTER

    love Butterfield. he is very knowledgable and a good doctor.

    January 29, 2023
    CLINICAL NEUROSCIENCES CENTER

    He cares about your child's health and well-being and makes sure your child gets the best care to manage their condition.

  • Russell Butterfield, MD, PhD received his PhD in mammalian genetics, and medical degree from the University of Illinois. He completed his residency training in pediatric neurology at the University of Utah in June 2009. He is currently an Associate Professor in the Departments of Neurology and Pediatrics, after completing a fellowship in neuromuscular disorders sponsored by the Muscular Dystrophy Association. Dr. Butterfield is board certified in Neurology with special qualification in child neurology. Dr. Butterfield’s clinical interests include all types of neurogenetic and neuromuscular disorders with an emphasis on muscular dystrophies of childhood onset. His research interests are in understanding genetic aspects of these disorders. His current efforts are in characterization of genotype/phenotype relationships and molecular pathogenesis in collagen VI myopathies such as Bethlem myopathy and Ullrich congenital muscular dystrophy.

    Board Certification and Academic Information

    Academic Departments Pediatrics -Primary
    Neurology -Primary
    Physical Therapy & Athletic Training -Adjunct
    Academic Divisions Neurology
    Board Certification
    American Board of Pediatrics (Pediatrics)
    American Board of Psychiatry & Neurology (Special Qualification in Child Neurology)

    Education history

    Fellowship Neuromuscular disorders - University of Utah Fellow
    Pediatric Neurology - University of Utah School of Medicine Resident
    Residency Pediatrics - University of Utah School of Medicine Resident
    Pediatrics - University of Utah School of Medicine Intern
    Professional Medical Medicine - University of Illinois M.D.
    Immunogenetics - University of Illinois at Urbana-Champaign Ph.D.
    Undergraduate Microbiology - Brigham Young University B.S.

    Selected Publications

    Journal Article

    1. Patel N, Berggren KN, Hung M, Bates K, Dixon MM, Bax K, Adams H, Butterfield RJ, Campbell C, Johnson NE (2024). Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy. Neurology, 102(5), e208115. (Read full article)
    2. Butterfield RJ, Dunn DM, Duval B, Moldt S, Weiss RB (2023). Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. Genome Res, 33(9), 1439-1454. (Read full article)
    3. Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, DHooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM (2023). Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy. Brain, 147(2), 414-426. (Read full article)
    4. Crawford TO, Swoboda KJ, De Vivo DC, Bertini E, Hwu WL, Finkel RS, Kirschner J, Kuntz NL, Nazario AN, Parsons JA, Pechmann A, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Zhu C, Raynaud S, Lago TR, Paradis AD, Foster R, Chin R, Berger Z, NURTURE Study Group (2023). Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle Nerve, 68(2), 157-170. (Read full article)
    5. Wang LH, Leung DG, Wagner KR, Lowry SJ, McDermott MP, Eichinger K, Higgs K, Walker M, Lewis L, Martens WB, Mul K, Sansone VA, Shieh P, Elsheikh B, LoRusso S, Butterfield RJ, Johnson N, Preston MR, Messina C, Carraro E, Tawil R, Statland J, ReSolve Investigators of the FSHD CTRN (2023). Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. (Read full article)
    6. Finkel RS, Darras BT, Mendell JR, Day JW, Kuntz NL, Connolly AM, Zaidman C, Crawford TO, Butterfield RJ, Shieh PB, Tennekoon G, Brandsema JF, Iannaccone ST, Shoffner J, Kavanagh S, Macek TA, Tauscher-Wisniewski S (2023). Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG). J Neuromuscul Dis. (Read full article)
    7. Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, ODriscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnire R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szab A, Smegi K, Cosse M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H, Genomics England Research Consortium (2022). Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. Genet Med, 25(1), 76-89. (Read full article)
    8. Sherlock SP, Palmer J, Wagner KR, Abdel-Hamid HZ, Tian C, Mah JK, Muntoni F, Guglieri M, Butterfield RJ, Charnas L, Marraffino S (2022). Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy. Sci Rep, 12(1), 18762. (Read full article)
    9. Muntoni F, Guglieri M, Mah JK, Wagner KR, Brandsema JF, Butterfield RJ, McDonald CM, Mayhew AG, Palmer JP, Marraffino S, Charnas L, Mercuri E (2022). Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial. PLoS One, 17(8), e0272858. (Read full article)
    10. Thomas FP, Brannagan TH 3rd, Butterfield RJ, Desai U, Habib AA, Herrmann DN, Eichinger KJ, Johnson-Cl NE, Karam C, Pestronk A, Quinn C, Shy ME, Statland JM, Subramony SH, Walk D, Stevens-Favorite K, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM (2022). Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease. Neurology. (Read full article)
    11. Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group, Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, OReardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T (2022). Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA, 327(15), 1456-1468. (Read full article)
    12. Statland JM, Campbell C, Desai U, Karam C, Daz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM (2022). Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. Muscle Nerve, 66, 50-62. (Read full article)
    13. Sherlock SP, Palmer J, Wagner KR, Abdel-Hamid HZ, Bertini E, Tian C, Mah JK, Kostera-Pruszczyk A, Muntoni F, Guglieri M, Brandsema JF, Mercuri E, Butterfield RJ, McDonald CM, Charnas L, Marraffino S (2022). Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab. J Neurol, 269, 4421-4435. (Read full article)
    14. McDonald CM, Marbn E, Hendrix S, Hogan N, Ruckdeschel Smith R, Eagle M, Finkel RS, Tian C, Janas J, Harmelink MM, Varadhachary AS, Taylor MD, Hor KN, Mayer OH, Henricson EK, Furlong P, Ascheim DD, Rogy S, Williams P, Marbn L, HOPE-2 Study Group (2021). Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet, 399(10329), 1049-1058. (Read full article)
    15. Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM (2022). Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Hum Mutat, 43, 511-528. (Read full article)
    16. Conway KM, Gedlinske A, Mathews KD, Perlman S, Johnson N, Butterfield R, Hung M, Bounsanga J, Matthews D, Oleszek J, Romitti PA (2021). A population-based study of scoliosis among males diagnosed with a dystrophinopathy identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Muscle Nerve, 65(2), 193-202. (Read full article)
    17. Butterfield RJ, Krikov S, Conway KM, Johnson N, Matthews D, Phan H, Cai B, Paramsothy P, Thomas S, Feldkamp ML (2022). Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne Muscular Dystrophy from MD STARnet. Muscle Nerve, 66, 15-23. (Read full article)
    18. Mathews KD, Conway KM, Gedlinske AM, Johnson N, Street N, Butterfield RJ, Hung M, Ciafaloni E, Romitti PA (2021). Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Children (Basel), 8(10). (Read full article)
    19. Grow EJ, Weaver BD, Smith CM, Guo J, Stein P, Shadle SC, Hendrickson PG, Johnson NE, Butterfield RJ, Menafra R, Kloet SL, van der Maarel SM, Williams CJ, Cairns BR (2021). p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models. Nat Genet, 53(8), 1207-1220. (Read full article)
    20. Butterfield RJ (2021). Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency. Semin Pediatr Neurol, 38, 100899. (Read full article)
    21. Butterfield RJ, Imburgia C, Mayne K, Newcomb T, Dunn DM, Duval B, Feldkamp ML, Johnson NE, Weiss RB (2021). High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis. Mol Genet Genomic Med, 9(4), e1619. (Read full article)
    22. Johnson NE, Butterfield RJ, Mayne K, Newcomb T, Imburgia C, Dunn D, Duval B, Feldkamp ML, Weiss RB (2021). Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program. Neurology, 96(7), e1045-e1053. (Read full article)
    23. Haber G, Conway KM, Paramsothy P, Roy A, Rogers H, Ling X, Kozauer N, Street N, Romitti PA, Fox DJ, Phan HC, Matthews D, Ciafaloni E, Oleszek J, James KA, Galindo M, Whitehead N, Johnson N, Butterfield RJ, Pandya S, Venkatesh S, Bhattaram VA (2020). Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy. Muscle Nerve, 63(2), 181-191. (Read full article)
    24. Jalali A, Rothwell E, Botkin JR, Anderson RA, Butterfield RJ, Nelson RE (2020). Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy. J Pediatr, 227, 274-280.e2. (Read full article)
    25. Rivera SR, Jhamb SK, Abdel-Hamid HZ, Acsadi G, Brandsema J, Ciafaloni E, Darras BT, Iannaccone ST, Konersman CG, Kuntz NL, McDonald CM, Parsons JA, Tesi Rocha C, Zaidman CM, Butterfield RJ, Connolly AM, Mathews KD (2020). Medical management of muscle weakness in Duchenne muscular dystrophy. PLoS One, 15(10), e0240687. (Read full article)
    26. Veerapandiyan A, Wagner KR, Apkon S, McDonald CM, Mathews KD, Parsons JA, Wong BL, Eichinger K, Shieh PB, Butterfield RJ, Rao VK, Smith EC, Proud CM, Connolly AM, Ciafaloni E (2020). The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic. Muscle Nerve, 62(1), 41-45. (Read full article)
    27. Veerapandiyan A, Connolly AM, Finkel RS, Arya K, Mathews KD, Smith EC, Castro D, Butterfield RJ, Parsons JA, Servais L, Kuntz N, Rao VK, Brandsema JF, Mercuri E, Ciafaloni E (2020). Spinal muscular atrophy care in the COVID-19 pandemic era. Muscle Nerve, 62(1), 46-49. (Read full article)
    28. Wagner KR, Abdel-Hamid HZ, Mah JK, Campbell C, Guglieri M, Muntoni F, Takeshima Y, McDonald CM, Kostera-Pruszczyk A, Karachunski P, Butterfield RJ, Mercuri E, Fiorillo C, Bertini ES, Tian C, Statland J, Sadosky AB, Purohit VS, Sherlock SP, Palmer JP, Binks M, Charnas L, Marraffino S, Wong BL (2020). Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy. Neuromuscul Disord, 30(6), 492-502. (Read full article)
    29. Butterfield RJ (2019). Congenital Muscular Dystrophy and Congenital Myopathy. Continuum (Minneap Minn), 25(6), 1640-1661. (Read full article)
    30. De Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, Kirschner J, Kuntz NL, Parsons JA, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Staropoli JF, Kerr D, Sandrock AW, Stebbins C, Petrillo M, Braley G, Johnson K, Foster R, Gheuens S, Bhan I, Reyna SP, Fradette S, Farwell W, NURTURE Study Group (2019). Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Disord, 29(11), 842-856. (Read full article)
    31. LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R, ReSolve Investigators and the FSHD CTRN18 (2019). Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study. BMC Neurol, 19(1), 224. (Read full article)
    32. Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, COL6A1 Intron 11 Study Group, Wilton SD, Lamand SR, MacArthur DG, Wagener R, Muntoni F, Bnnemann CG (2019). A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight, 4(6). (Read full article)
    33. Lee AJ, Jones KA, Butterfield RJ, Cox MO, Konersman CG, Grosmann C, Abdenur JE, Boyer M, Beson B, Wang C, Dowling JJ, Gibbons MA, Ballard A, Janas JS, Leshner RT, Donkervoort S, Bnnemann CG, Malicki DM, Weiss RB, Moore SA, Mathews KD (2019). Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. Neurol Genet, 5(2), e315. (Read full article)
    34. Clark EB, Butterfield RJ, Filloux FM, Bonkowsky JL (2019). Development, Implementation, and Use of a Neurology Therapeutics Committee. Child Neurol Open, 6, 2329048X19830473. (Read full article)
    35. Pucillo EM, Mcintyre MM, Pautler M, Hung M, Bounsanga J, Voss MW, Hayes H, Dibella DL, Trujillo C, Dixon M, Butterfield RJ, Johnson NE (2018). Modified dynamic gait index and limits of stability in myotonic dystrophy type 1. Muscle Nerve, 58(5), 694-699. (Read full article)
    36. Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelivre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bnnemann CG (2014). Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. Hum Mutat, 36(1), 48-56. (Read full article)

    Review

    1. Birnkrant DJ, Bello L, Butterfield RJ, Carter JC, Cripe LH, Cripe TP, McKim DA, Nandi D, Pegoraro E (2021). Cardiorespiratory management of Duchenne muscular dystrophy: emerging therapies, neuromuscular genetics, and new clinical challenges. [Review]. Lancet Respir Med, 10(4), 403-420. (Read full article)

    Editorial

    1. Johnson NE, Butterfield R (2019). Muscle at the junction: Where next generation sequencing is sending us. Neurology, 92(13), 591-592. (Read full article)

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