Brody disease: When myotonia is not myotonia

• Tipo: Artigo em Revista Científica Internacional
• Data: 2019

Autores

Braz, L (Autor) Outra; Ricardo Reis (Autor) FMUP; Seabra, M (Autor) Outra; Silveira, F (Autor) Outra; Guimarães, J (Autor) Outra

Revista

Título: Practical Neurology

Vol. 19

Páginas: 417-419

ISSN: 1474-7758

Editora: BMJ PUBLISHING GROUP

Indexação

Scopus - 3 Citações

Outras Informações

ID Authenticus: P-00Q-GSG

DOI: 10.1136/practneurol-2019-002224

Abstract (EN): A 56-year-old man presented with painless impairment of muscle relaxation on vigorous contraction (eg, eyelid closure, hand grip, running). There were no episodes of paralysis, symptom progression, weakness or extramuscular symptoms. Five of his fifteen siblings had similar complaints. His serum creatine kinase was normal. Electromyography showed electrical silence on muscle relaxation, without myotonic discharges. DMPK, ClCN1 and SCN4A genetic testing was normal, but he had a homozygous pathogenic variant of ATP2A1 (c.1315G>A; pGlu439Lys). Brody disease is a rare autosomal recessive myopathy due to ATP2A1 mutations that reduce sarcoplasmic reticulum calcium-ATPase1 activity, hence delaying muscle relaxation. © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Idioma: Inglês

Tipo (Avaliação Docente): Científica