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Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.
Neuromuscul Disord. 2020 Jul; 30(7):554-561.ND

Abstract

Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of non-dystrophic myotonias describe European populations. Therefore, to expand the genetic and phenotypic spectrum of this disorder, we evaluated 30 Chilean patients with non-dystrophic myotonias for associated variants and clinical characteristics. SCN4A variants were observed in 28 (93%) of patients, including 25 (83%) with myotonia permanens due to the Gly1306Glu variant. Myotonia permanens was inherited in 24 (96%) patients; the mean age of onset was 6 months, and the initial symptoms were orbicularis oculi myotonia in 17 (74%) patients and larynx myotonia in 12 (52%) patients. The extraocular muscles were involved in 11 (44%) patients, upper limbs in 20 (80%), and lower limbs in 21 (84%). Thirteen (52%) patients experienced recurrent pain and 10 (40%) patients reported limitations in daily life activities. Carbamazepine reduced myotonia in eight treated patients. The high frequency of the Gly1306Glu variant in SCN4A in Chilean patients suggests a founder effect and expands its phenotypic spectrum.

Authors+Show Affiliations

Unidad de Neurología Pediátrica, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago, Región Metropolitana 8330077, Chile; Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Avenida Concha y Toro 3459, Puente Alto, Región Metropolitana,8207257, Chile. Electronic address: davila@uc.cl.Departamento de Pediatría y Cirugía Infantil Norte, Universidad de Chile, Av. Independencia 1027, Santiago 8380453, Chile; Hospital de Niños Roberto del Río, Profesor Zañartu 1085, Independencia, Región Metropolitana 8380418, Chile.Unidad de Neurología Pediátrica, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago, Región Metropolitana 8330077, Chile; Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Avenida Concha y Toro 3459, Puente Alto, Región Metropolitana,8207257, Chile.Departamento de Pediatría y Cirugía Infantil Norte, Universidad de Chile, Av. Independencia 1027, Santiago 8380453, Chile.Unidad de Neurología Pediátrica, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago, Región Metropolitana 8330077, Chile; Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Avenida Concha y Toro 3459, Puente Alto, Región Metropolitana,8207257, Chile.Departamento de Pediatría y Cirugía Infantil Norte, Universidad de Chile, Av. Independencia 1027, Santiago 8380453, Chile; Clínica Las Condes, Estoril 450, Las Condes, Región Metropolitana 7591047, Chile.Departamento de Laboratorios Clínicos, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago, Región Metropolitana 8330077, Chile.Departamento de Pediatría y Cirugía Infantil Norte, Universidad de Chile, Av. Independencia 1027, Santiago 8380453, Chile.Departamento de Salud Pública, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago, Región Metropolitana 8330077, Chile.Departamento de Neurología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago, Región Metropolitana 8330077, Chile.Unidad de Genética y Enfermedades Metabólicas, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago, Región Metropolitana 8330077, Chile.Unité de Cardiogénétique et Myogénétique, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, 47-83 Boulevard de l'Hôpital, Paris 75013, France.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32593548

Citation

Avila-Smirnow, Daniela, et al. "Non-dystrophic Myotonia Chilean Cohort With Predominance of the SCN4A Gly1306Glu Variant." Neuromuscular Disorders : NMD, vol. 30, no. 7, 2020, pp. 554-561.
Avila-Smirnow D, Vargas Leal CP, Beytía Reyes MLA, et al. Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant. Neuromuscul Disord. 2020;30(7):554-561.
Avila-Smirnow, D., Vargas Leal, C. P., Beytía Reyes, M. L. A., Cortés Zepeda, R., Escobar, R. G., Kleinsteuber Saa, K., Lagos Lucero, M., Avaria Benapres, M. L. A., Padilla Pérez, O., Casar Leturia, J. C., Mellado Sagredo, C., & Sternberg, D. (2020). Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant. Neuromuscular Disorders : NMD, 30(7), 554-561. https://doi.org/10.1016/j.nmd.2020.04.006
Avila-Smirnow D, et al. Non-dystrophic Myotonia Chilean Cohort With Predominance of the SCN4A Gly1306Glu Variant. Neuromuscul Disord. 2020;30(7):554-561. PubMed PMID: 32593548.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant. AU - Avila-Smirnow,Daniela, AU - Vargas Leal,Carmen Paz, AU - Beytía Reyes,María de Los Angeles, AU - Cortés Zepeda,Rocío, AU - Escobar,Raúl G, AU - Kleinsteuber Saa,Karin, AU - Lagos Lucero,Marcela, AU - Avaria Benapres,María de Los Angeles, AU - Padilla Pérez,Oslando, AU - Casar Leturia,Juan Carlos, AU - Mellado Sagredo,Cecilia, AU - Sternberg,Damien, Y1 - 2020/05/19/ PY - 2020/01/15/received PY - 2020/04/03/revised PY - 2020/04/23/accepted PY - 2020/7/1/pubmed PY - 2020/7/1/medline PY - 2020/6/29/entrez KW - Apnoea KW - Carbamazepine KW - Founder Effect KW - Laryngospasm KW - Myotonia Congenita KW - Strabismus SP - 554 EP - 561 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 30 IS - 7 N2 - Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of non-dystrophic myotonias describe European populations. Therefore, to expand the genetic and phenotypic spectrum of this disorder, we evaluated 30 Chilean patients with non-dystrophic myotonias for associated variants and clinical characteristics. SCN4A variants were observed in 28 (93%) of patients, including 25 (83%) with myotonia permanens due to the Gly1306Glu variant. Myotonia permanens was inherited in 24 (96%) patients; the mean age of onset was 6 months, and the initial symptoms were orbicularis oculi myotonia in 17 (74%) patients and larynx myotonia in 12 (52%) patients. The extraocular muscles were involved in 11 (44%) patients, upper limbs in 20 (80%), and lower limbs in 21 (84%). Thirteen (52%) patients experienced recurrent pain and 10 (40%) patients reported limitations in daily life activities. Carbamazepine reduced myotonia in eight treated patients. The high frequency of the Gly1306Glu variant in SCN4A in Chilean patients suggests a founder effect and expands its phenotypic spectrum. SN - 1873-2364 UR - https://www.unboundmedicine.com/medline/citation/32593548/Non-dystrophic_myotonia_Chilean_cohort_with_predominance_of_the_SCN4A_Gly1306Glu_variant L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(20)30098-5 DB - PRIME DP - Unbound Medicine ER -