TY - DATA T1 - The relative frequency of common neuromuscular diagnoses in a reference center PY - 2017/12/13 AU - Ana Cotta AU - Júlia Filardi Paim AU - Elmano Carvalho AU - Antonio Lopes da-Cunha-Júnior AU - Monica M. Navarro AU - Jaquelin Valicek AU - Miriam Melo Menezes AU - Simone Vilela Nunes AU - Rafael Xavier-Neto AU - Sidney Baptista Junior AU - Luciano Romero Lima AU - Reinaldo Issao Takata AU - Antonio Pedro Vargas UR - https://scielo.figshare.com/articles/dataset/The_relative_frequency_of_common_neuromuscular_diagnoses_in_a_reference_center/5696011 DO - 10.6084/m9.figshare.5696011.v1 L4 - https://ndownloader.figshare.com/files/9976204 L4 - https://ndownloader.figshare.com/files/9976210 L4 - https://ndownloader.figshare.com/files/9976222 L4 - https://ndownloader.figshare.com/files/9976228 L4 - https://ndownloader.figshare.com/files/9976234 KW - diagnosis KW - neuromuscular diseases KW - biopsy KW - epidemiology N2 - ABSTRACT The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. Objective: To report the relative frequency of common neuromuscular diagnoses in a reference center. Methods: A 17-year chart review of patients with suspicion of myopathy. Results: Among 3,412 examinations, 1,603 (46.98%) yielded confirmatory results: 782 (48.78%) underwent molecular studies, and 821 (51.21%) had muscle biopsies. The most frequent diagnoses were: dystrophinopathy 460 (28.70%), mitochondriopathy 330 (20.59%), spinal muscular atrophy 158 (9.86%), limb girdle muscular dystrophy 157 (9.79%), Steinert myotonic dystrophy 138 (8.61%), facioscapulohumeral muscular dystrophy 99 (6.17%), and other diagnoses 261 (16.28%). Conclusion: Using the presently-available diagnostic techniques in this service, a specific limb girdle muscular dystrophy subtype diagnosis was reached in 61% of the patients. A neuromuscular-appropriate diagnosis is important for genetic counseling, rehabilitation orientation, and early treatment of respiratory and cardiac complications. ER -