Action myoclonus-renal failure syndrome (AMRF) is a distinctive form of progressive myoclonus epilepsy associated with renal dysfunction. The syndrome was not recognized prior to the advent of dialysis and renal transplantation because of its rapidly fatal course if renal failure is untreated. The first and only description of AMRF was in four French Canadian patients in three families (Andermann et al., 1986). We now describe 15 individuals with AMRF from five countries, including a follow-up of the four French Canadian patients, allowing a more complete characterization of this disease. Our 15 patients with AMRF belong to nine different families. Segregation analyses were compatible with autosomal recessive inheritance. In addition, our findings show that AMRF can present with either renal or neurological features. Tremor (onset 17-26 years, mean 19.8 years, median 19 years) and progressively disabling action myoclonus (onset 14-29 years, mean 21.7 years, median 21 years), with infrequent generalized seizures (onset 20-28 years, mean 22.7 years, median 22 years) and cerebellar features are characteristic. Proteinuria, detected between ages 9 and 30 years in all cases, progressed to renal failure in 12 out of 15 patients within 0-8 years after proteinuria detection. Brain autopsy in two patients revealed extraneuronal pigment accumulation. Renal biopsies showed collapsing glomerulopathy, a severe variant of focal glomerulosclerosis. This study extends the AMRF phenotype, and demonstrates a more extensive ethnic and geographic distribution of a syndrome originally believed to be confined to individuals of French Canadian ancestry. The independent progression of neurological and renal disorders in AMRF suggests a unitary molecular lesion with pleiotropic effects. Our results demonstrate that the renal lesion in AMRF is a recessive form of collapsing glomerulopathy. Genes identified for focal segmental glomerulosclerosis and involved with the function of the glomerular basement membrane and related proteins are thus good candidates. Treatment can improve quality of life and extend the lifespan of these patients. Dialysis and renal transplantation are effective for the renal but not the neurological features, which continue to progress even in the presence of normalized renal function; the latter can be managed with anti-myoclonic and anti-epileptic drugs.

-Orbital myositis implies orbital inflammation confined to one or more of the extraocular muscles. The acute form responds well to high doses of oral corticosteroids tapered gradually, but it may recur or become chronic. We describe a 38 years old female who has been suffering from rheumatoid arthritis for six years. She developed diplopia as a result of a paralysis of the right and left rectus medialis muscle. MRI showed inflammatory process and thickness of the referred muscles. The patient had a total recovery with oral use of 80 mg methylpredinisolone daily. Two months after the first episode she developed a bilateral ophthalmoplegy. The patient improved with oral use of steroids the second time, but a paresis of the left rectus lateralis muscle remained. From the 156 cases we reviewed only three have been related to rheumatic diseases and none has been previously related to rheumatoid arthritis.KEY WORDS: orbital myositis, ophthalmoplegy, rheumatoid arthritis.Miosite orbitária e artrite reumatóide: relato de caso RESUMO -Miosite orbitaria é a inflamação de um ou mais músculos extraoculares. A forma aguda responde ao tratamento com doses altas de esteróides, porém pode-se tornar recorrente ou crônica. Relatamos uma paciente de 38 anos de idade, portadora de artrite reumatoide há 6 anos, que apresentou diplopia e cefaléia de um mês de evolução. A ressonância magnética (RM) de órbitas mostrou processo inflamatório e espessamento dos músculos reto mediais. A paciente apresentou recuperação completa após o uso de 80 mg/dia de metilprednisolona. Dois meses depois, ela apresentou oftalmoplegia bilateral que acometia toda a musculatura ocular extrínseca. Desta vez, a RM foi normal. A paciente melhorou com nova série do esteroide, porém permaneceu com paresia do músculo reto lateral esquerdo como sequela. Revisamos 153 casos de miosite orbitaria publicados; apenas três estavam relacionados com doenças reumatológicas e nenhum deles com artrite reumatóide. PALAVRAS-CHAVES: miosite orbitária, artrite reumatoide,oftalmoplegia.

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