The relative frequency of common neuromuscular diagnoses in a reference center.

Autor:	Cotta A; Rede SARAH de Hospitais de Reabilitação, Departamento de Patologia, Belo Horizonte MG, Brasil., Paim JF; Rede SARAH de Hospitais de Reabilitação, Departamento de Patologia, Belo Horizonte MG, Brasil., Carvalho E; Rede SARAH de Hospitais de Reabilitação, Departamento de Neurofisiologia, Belo Horizonte MG, Brasil., da-Cunha-Júnior AL; Rede SARAH de Hospitais de Reabilitação, Departamento de Radiologia, Belo Horizonte MG, Brasil., Navarro MM; Rede SARAH de Hospitais de Reabilitação, Departamento de Pediatria, Belo Horizonte MG, Brasil., Valicek J; Rede SARAH de Hospitais de Reabilitação, Departamento de Neurofisiologia, Belo Horizonte MG, Brasil., Menezes MM; Rede SARAH de Hospitais de Reabilitação, Departamento de Neurologia, Belo Horizonte MG, Brasil., Nunes SV; Rede SARAH de Hospitais de Reabilitação, Departamento de Neurologia, Belo Horizonte MG, Brasil., Xavier-Neto R; Rede SARAH de Hospitais de Reabilitação, Departamento de Neurologia, Belo Horizonte MG, Brasil., Baptista S Junior; Rede SARAH de Hospitais de Reabilitação, Departamento de Patologia, Belo Horizonte MG, Brasil., Lima LR; Rede SARAH de Hospitais de Reabilitação, Departamento de Informática, Belo Horizonte MG, Brasil., Takata RI; Rede SARAH de Hospitais de Reabilitação, Departamento de Biologia Molecular, Brasília DF, Brasil., Vargas AP; Rede SARAH de Hospitais de Reabilitação, Departamento de Neurologia, Belo Horizonte MG, Brasil.
Jazyk:	angličtina
Zdroj:	Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2017 Nov; Vol. 75 (11), pp. 789-795.
DOI:	10.1590/0004-282X20170151
Abstrakt:	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.
Databáze:	MEDLINE
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