Genetic myopathies in adults: experience of a tertiary healthcare center in Mexico


  • Edwin Steven Vargas-Cañas Instituto Nacional de Neurología y Neurocirugía
  • Eunice Martínez-Jiménez Instituto Nacional de Neurología y Neurocirugía
  • Javier Andrés Galnares-Olalde Instituto Nacional de Neurología y Neurocirugía
  • Francisca Fernández-Valverde Instituto Nacional de Neurología y Neurocirugía
  • Adib Jorge de Sarachaga Instituto Nacional de Neurología y Neurocirugía
  • Anna Lisette Bazán-Rodríguez Instituto Nacional de Neurología y Neurocirugía
  • Edmar Benitez-Alonso Instituto Nacional de Neurología y Neurocirugía
  • Juan Carlos López-Hernández Instituto Nacional de Neurología y Neurocirugía



dystrophies, genetic, myopathies


Background: Genetic myopathies in adults are rare and represent a diagnostic challenge. With the advent of next generation sequencing panels, these diseases have been molecularly catalogued, allowing a better approach, follow-up, prognosis and treatment.

Objective: to describe the frequency of the main clinical phenotypes of myopathy of genetic origin in adults in a tertiary care center in Mexico.

Methodology: a cross-sectional study was carried out, including all patients with a clinical diagnosis of genetic myopathy from a neuromuscular disease clinic from 2017 to 2021. Clinical and paraclinical characteristics were collected at the time of diagnosis, muscle biopsy report and genetic study.

Results: 85 patients were included. The mean age of onset of symptoms was 27, with a delay in diagnosis of 7 years. The main clinical phenotypes are limb-girdle dystrophy (28%), myotonic dystrophy type 1 (26.8%), congenital myopathy (17.1%), metabolic myopathy (9.8%), oculopharyngeal (7.3%) and facioscapulohumeral (6.1%).

Conclusion: the main myopathies of genetic origin in our population are myotonic dystrophy type 1 and limb-girdle dystrophy. Recognition of them is important for proper counseling, follow-up, prognosis, and treatment of potential associated conditions.


- Theadom A, Rodrigues M, Poke G, O'Grady G, Love D, Hammond-Tooke G, Parmar P, Baker R, Feigin V, Jones K, Te Ao B, Ranta A, Roxburgh R; On Behalf of the MDPrev Research Group. A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders. Neuroepidemiology. 2019;52(3-4):128-135. DOI:

- Shieh PB. Muscular dystrophies and other genetic myopathies. Neurol Clin. 2013 Nov;31(4):1009-29. DOI:

- Chakravorty S, Nallamilli BRR, Khadilkar SV, Singla MB, Bhutada A, Dastur R, Gaitonde PS, Rufibach LE, Gloster L, Hegde M. Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. Front Neurol. 2020 Nov 5;11:559327. DOI:

- Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J. Differential diagnosis of vacuolar myopathies in the NGS era. Brain Pathol. 2020 Sep;30(5):877-896. DOI:

- Barohn RJ, Dimachkie MM, Jackson CE. A pattern recognition approach to patients with a suspected myopathy. Neurol Clin. 2014 Aug;32(3):569-93, vii. DOI:

- Verhaart IEC, Aartsma-Rus A. Therapeutic developments for Duchenne muscular dystrophy. Nat Rev Neurol. 2019 Jul;15(7):373-386 DOI:

- Mah JK, Korngut L, Fiest KM, Dykeman J, Day LJ, Pringsheim T, Jette N. A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016 Jan;43(1):163-77. DOI:

- Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009 Nov;132(Pt 11):3175-86. DOI:

- Cotta A, Paim JF, Carvalho E, da-Cunha-Júnior AL, Navarro MM, Valicek J, Menezes MM, Nunes SV, Xavier-Neto R, Baptista S Junior, Lima LR, Takata RI, Vargas AP. The relative frequency of common neuromuscular diagnoses in a reference center. Arq Neuropsiquiatr. 2017 Nov;75(11):789-795 DOI:

- Gómez-Díaz B, Rosas-Vargas H, Roque-Ramírez B, Meza-Espinoza P, Ruano-Calderón LA, Fernández-Valverde F, Escalante-Bautista D, Escobar-Cedillo RE, Sánchez-Chapul L, Vargas-Cañas S, López-Hernández LB, Bahena-Martínez E, Luna-Angulo AB, Canto P, Coral-Vázquez RM. Immunodetection analysis of muscular dystrophies in Mexico. Muscle Nerve. 2012 Mar;45(3):338-45. DOI:

- Spuler S, Stroux A, Kuschel F, Kuhlmey A, Kendel F. Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician. BMC Health Serv Res. 2011 May 4;11:91. DOI:

- Bockhorst J, Wicklund M. Limb Girdle Muscular Dystrophies. Neurol Clin. 2020 Aug;38(3):493-504. DOI:

- Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. Orphanet J Rare Dis. 2020 Jan 13;15(1):11. DOI:

- Johnson NE. Myotonic Muscular Dystrophies. Continuum (Minneap Minn). 2019 Dec;25(6):1682-1695. DOI:

- Meola G. Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myol. 2013 Dec;32(3):154-65.

- Kirschner J. Congenital muscular dystrophies. Handb Clin Neurol. 2013;113:1377-85. DOI:

-Zambon AA, Muntoni F. Congenital muscular dystrophies: What is new? Neuromuscul Disord. 2021 Oct;31(10):931-942. DOI:

- Lilleker JB, Keh YS, Roncaroli F, Sharma R, Roberts M. Metabolic myopathies: a practical approach. Pract Neurol. 2018 Feb;18(1):14-26. DOI:

- Olimpio C, Tiet MY, Horvath R. Primary mitochondrial myopathies in childhood. Neuromuscul Disord. 2021 Oct;31(10):978-987. DOI:

-Tarnopolsky MA. Metabolic Myopathies. Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1829-1851. DOI:

- Brais B. Oculopharyngeal muscular dystrophy. Handb Clin Neurol. 2011;101:181-92. DOI:

-Cruz-Aguilar M, Guerrero-de Ferran C, Tovilla-Canales JL, Nava-Castañeda A, Zenteno JC. Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD). J Investig Med. 2017 Mar;65(3):705-708. DOI:

- Tawil R. Facioscapulohumeral muscular dystrophy. Handb Clin Neurol. 2018;148:541-548. DOI:

- Hamel J, Tawil R. Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments. Neurotherapeutics. 2018 Oct;15(4):863-871. DOI:

- López-Hernández JC, Galnares-Olalde JA, Benitez-Alonso E, Alcalá RE, Vargas-Cañas ES. Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report. Cureus. 2021 Oct 18;13(10):e18873. DOI:



How to Cite

Vargas-Cañas, E. S., Martínez-Jiménez, E., Galnares-Olalde, J. A., Fernández-Valverde, F., Jorge de Sarachaga, A., Bazán-Rodríguez, A. L., Benitez-Alonso, E., & López-Hernández, J. C. (2022). Genetic myopathies in adults: experience of a tertiary healthcare center in Mexico. Archivos De Neurociencias, 28(1).



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