Distrofia muscular de Emery-Dreifuss tipo 1: un desafío diagnóstico a propósito de un caso

Distrofia muscular de Emery-Dreifuss tipo 1: un desafío diagnóstico a propósito de un caso

La distrofia muscular de Emery-Dreifuss es una miopatía degenerativa rara con una incidencia global de 1 en 100 000, caracterizada clínicamente por la triada de contracturas en codos, tobillos y columna rígida de inicio cervical y atrofia muscular de inicio humeroperoneal. Los genes relacionados has...

Full description

Saved in:

Bibliographic Details
Main Authors:	Maria Camila Gutierrez Vargas, Henry Ostos Alfonso, Paloma Catalina Ostos Gonzalez
Format:	Article
Language:	English
Published:	Universidad El Bosque 2025-02-01
Series:	Revista Salud Bosque
Subjects:	distrofias musculares distrofia muscular de Emery-Dreifuss tendinopatías debilidad muscular pruebas genéticas
Online Access:	https://revistas.unbosque.edu.co/index.php/RSB/article/view/4390
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Distrofia muscular de cinturas tipo 2C (LGMD2C)
by: Sandra Milena Zuleta Alarcón, et al.
Published: (2025-01-01)

La artrogriposis múltiple: a propósito de un caso
by: Diego Alexis Blanco Manso
Published: (2012-09-01)

Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation
by: Humberto Perera Navarro, et al.
Published: (2007-05-01)

Diagnóstico molecular de distrofia muscular de Duchenne/Becker en una familia sin antecedentes patológicos de la enfermedad
by: Ivonne Martín Hernández, et al.
Published: (2018-10-01)

Resúmenes de los trabajos sobre las Enfermedades Neuromusculares
by: Congreso Nacional de Neurología
Published: (2010-03-01)

Parálisis periódica hipopotasémica. Presentación de un caso
by: Carlos García Gómez, et al.
Published: (2020-10-01)

Distrofia miotónica de Steinert. Presentación de un caso
by: Rafael Lorenzo Comas Valdespino, et al.
Published: (2017-02-01)

Acidosis tubular renal distal y parálisis hipopotasémica. Presentación de un caso y revisión de la literatura
by: Miguel Ángel Serra Valdés, et al.
Published: (2016-02-01)

Regional anesthesia and muscle-wasting diseases in pediatrics: A focused educational review
by: Amr Elhamrawy, et al.
Published: (2025-01-01)

Effects of twelve-week aerobic exercise on selected health-related physical fitness variables on Gonji preparatory school male students
by: Abdurahman Esleman, et al.
Published: (2022-02-01)

Effects of twelve-week aerobic exercise on selected health-related physical fitness variables on Gonji preparatory school male students
by: Abdurahman Esleman, et al.
Published: (2022-02-01)

Yogic Practices as a Complementary Approach to Physical Fitness: An Intervention Study
by: Tarak Nath Pramanik, et al.
Published: (2025-01-01)

Muscular Endurance Training: Bridging Gym Practices with Science Recommendations
by: P. Prieto-Gonzalez, et al.
Published: (2024-12-01)

Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study
by: Jana Zang, et al.
Published: (2025-01-01)

A case report of autosomal dominant deafness type 2A potentially resulting in muscular dystrophy
by: Yongyu Yang, et al.
Published: (2025-02-01)

Dermatomiositis. Presentación de un caso
by: Yanelka Bouza Jiménez, et al.
Published: (2018-04-01)

Análisis psicométrico de tests de fitness muscular y propuesta de batería de tests para Educación Física en Educación Primaria
by: Pepe Vanaclocha-Amat, et al.
Published: (2024-12-01)

Índice antropométrico y su relación con los saltos verticales y la potencia muscular en basquetbolistas
by: Diomedes Augusto Garcia Hilares, et al.
Published: (2025-01-01)

The different release techniques in high level archery: A comparative case study
by: Deniz Sımsek, et al.
Published: (2015-02-01)

Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment
by: T. Mikalauskas, et al.
Published: (2023-10-01)

Myotonic Steiner dystrophy in a family. Case Presentation
by: María Octavina Rodríguez Roque, et al.
Published: (2020-02-01)

Safety and Efficacy of Nusinersen Focusing on Renal and Hematological Parameters in Spinal Muscular Atrophy
by: Hüseyin Bahadır Şenol, et al.
Published: (2025-01-01)

Utilizing physical educators to monitor muscular strength and neuromuscular control among children with varied recess time
by: G. Kate Webb, et al.
Published: (2025-02-01)

Outcome measures in muscular dystrophy rehabilitation: an ICF content comparison approach to the most commonly used MD scales
by: Mihaela Taranu, et al.
Published: (2025-01-01)

“…They were just treating her Symptom by Symptom”: maternal experiences of having a child with spinal muscular atrophy in Ghana
by: Esther Doe-Yo Tawiah, et al.
Published: (2025-02-01)

Representações dos corpos masculinos na revista Men's Health
by: Josimar Faria Duarte
Published: (2012-01-01)

Relação entre dois testes funcionais: Teste de levantar-se e se sentar da cadeira de 30s e timed up and go
by: Carlos Eduardo Campos, et al.
Published: (2022-08-01)

Quality of life in patients with spinal muscular atrophy in Brazil: patient self-assessment and carer perception
by: Maíra Coelho, et al.
Published: (2025-01-01)

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families
by: Bin Mao, et al.
Published: (2025-01-01)

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy
by: Wiktoria Radziwonik-Frączyk, et al.
Published: (2024-07-01)

Titin fragment is a sensitive biomarker in Duchenne muscular dystrophy model mice carrying full-length human dystrophin gene on human artificial chromosome
by: Yosuke Hiramuki, et al.
Published: (2025-01-01)

Memories of Professor François Gros
by: Takeda, Shin’ichi
Published: (2023-12-01)

Efectos del uso de una válvula de umbral inspiratoria y presión positiva espiratoria en pacientes de rehabilitación pulmonar
by: Javier Eliecer Pereira-Rodríguez, et al.
Published: (2023-07-01)

Pharmacological interventions for the management of anesthesia and sedation in patients with Duchenne muscular dystrophy: a systematic review and meta-analysis
by: Xianghong Lian, et al.
Published: (2025-01-01)

Unraveling the Genetic Heartbeat: Decoding Cardiac Involvement in Duchenne Muscular Dystrophy
by: Valeria Novelli, et al.
Published: (2025-01-01)

Review of upper extremity passive joint impedance identification in people with Duchenne Muscular Dystrophy
by: Suzanne J. Filius, et al.
Published: (2025-01-01)

Caregiver Global Impression Observations from EMBARK: A Phase 3 Study Evaluating Delandistrogene Moxeparvovec in Ambulatory Patients with Duchenne Muscular Dystrophy
by: Craig M. McDonald, et al.
Published: (2024-11-01)

Síndrome de Cohen. Presentación de un caso
by: Elayne Esther Santana Hernández, et al.
Published: (2014-04-01)

A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy
by: Abdelbaset Mohamed Elasbali, et al.
Published: (2025-02-01)

Reduced white matter integrity and disrupted brain network in children with type 2 and 3 spinal muscular atrophy
by: Huirong Nie, et al.
Published: (2025-01-01)