title: [Spheroid body myopathy: case report].
abstract: Spheroid body myopathy is a rare illness classified in the group of the congenital myopathies as a desmin-related neuromuscular disorder, presenting dominant autosomical origin with the beginning of the symptoms in the adult phase. We report on a seven years old girl with facial paresia, generalized muscular hypotrophy and hypotony, generalized deep areflexia, proximal upper and lower limbs muscular strengh and distal upper limbs grade 3 and distal lower limbs grade 1. Needle electromyography evidenced increased conscription and potentials of motor unit of short duration and low amplitude, characterizing a myopathic standard. The muscle biopsy disclosed mixed standard to myopathy, denervation and inclusion bodies that are consistent to spheroid body myopathy. In this case, the patient presented, in advance, early beginning of the symptoms and there are no similar cases in the family.
authors.affiliation: Setor de Doenças Neuromusculares, Serviço de Neurologia e Disciplina de Propedêutica Médica do Departamento de Clínica Médica do Hospital de Clínicas da Universidade Federal do Paraná (HC-UFPR), Curitiba PR, Brasil. scola@hc.ufpr.br
authors.forename: Rosana Hermínia
authors.initials: RH
authors.lastname: Scola
authors.forename: Alcides Júnior
authors.initials: AJ
authors.lastname: Trentin
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Vaez
authors.forename: Vinicius de Faria
authors.initials: Vde F
authors.lastname: Gignon
authors.forename: Thaís Gurgel
authors.initials: TG
authors.lastname: Costa
authors.forename: Lineu Cesar
authors.initials: LC
authors.lastname: Werneck
mesh_terms: D001706:Biopsy; D002648:Child; D004576:Electromyography; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D018979:Myositis, Inclusion Body / Q000175:diagnosis*