Arquivos de neuro-psiquiatria · 2017
The relative frequency of common neuromuscular diagnoses in a reference center.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Cotta Ana, Paim Júlia Filardi, Carvalho Elmano, da-Cunha-Júnior Antonio Lopes, Navarro Monica M, Valicek Jaquelin, Menezes Miriam Melo, Nunes Simone Vilela, Xavier-Neto Rafael, Baptista Sidney, Lima Luciano Romero, Takata Reinaldo Issao, Vargas Antonio Pedro
Аннотация
UNLABELLED: 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.
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.