EMERY EMERY-DREIFUS -DREIFUSS MUSCUL S MUSCUL AR D AR DYSTROPHY YSTROPHY ANATOMICAL-CLINICAL CORRELATION CASE REPORT ALZIRA ALVES DE SIQUEIRA CARVALHO* , JOSÉ ANTONIO LEVY* * , PAULO S. GUTIERREZ* * * , SUELY KAZUE NAGAHASHI MARIE* , EDUARDO ARGENTINO SOSA * * * * , M AURÍCIO SCANA VACA* * * * ABSTRACT – We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old . At age 26 he developed tachycardia episodes. A complex arrhythmia was discovered, and a nodal ablation was done with a cardiac pacemaker implanted. The patient had an arrhythmia and sudden death followed this. Emery-Dreifuss muscular dystrophy is a rare recessive X-linked muscular disorder where mixed patterns in electromyography and muscle histology (neurogenic and/or myopathic) have caused nosological confusion. The autopsy findings are here described and correlated to the clinical features in an attempt to better understand the ambiguous findings concerning the process etiology . KEY WORDS: muscular dystrophy , arrhythmia, muscle, biopsy. Distrofia muscular de Emery-Dreifuss: correlação anátomo-clínica (relato de caso) RESUMO – Relatamos o caso de um paciente com fraqueza muscular de distribuição úmero-peroneal associada a limitação de movimentos da coluna cervical e cotovelos. Aos 26 anos, ele desenvolveu episódios de taquicardia. Uma arritmia complexa foi descoberta sendo feito ablação nodal seguida por implante de marcapasso cardíaco. O paciente evoluiu com arritmia e morte. A distrofia de Emery-Dreifuss é desordem muscular rara, recessiva, ligada ao cromossomo X cujo aspectos mistos (neurogênico e/ou miopático) na eletroneuromiografia e biopsia muscular tem provocado dúvidas na nosologia. Os achados de autopsia são descritos e correlacionados aos critérios clínicos na tentativa de melhor compreender os achados ambíguos em relação à etiologia. PALAVRAS-CHAVE: distrofia muscular, arritmia, músculo, biopsia. Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures (especially in the neck, elbows and ankles), slowly progressing muscle weakness more prominent in humeroperoneal region, onset between 5 and 15 years of age, and peculiar cardiac problems followed by death in some cases and need for a permanent cardiac pacemaker in others 1-5 . The first report of this syndrome was compatible with an X-linked recessive myopathy. In 1985, it was published the first report of two related females in whom the inheritance seemed to be autosomal dominant 2 . We report on a case of EDMD. Setor de Doenças Neuromusculares do Departamento de Neurologia da Faculdade de Medicina da Universidade de São Paulo (FMUSP) . * Neurologist; **Associate Professor of Neurology; ***Pathologist of the INCOR (Instituto do Coração / FMUSP) ; ****Cardiologist of the INCOR Aceite: 23-agosto-2000. Dra. Alzira Alves de Siqueira Carvalho - Rua Jacques Felix 326 / 15 - 04509-001 São Paulo SP – Brasil. Arq Neuropsiquiatr 2000;58(4):1123-1127