Familial mydriasis, cardiac arrhythmia, respiratory failure, muscular weakness and hypohidrosis

To describe a family with some sort of progressive autonomic failure in one generation (2 affected of a sibship of 7 sisters). The main features were: mydriasis, cardiac arrhythmia, cardiomegaly, hypohidrosis, respiratory fai lure, and muscular weakness. Methods Pupillometry, evaporimetry, and isokin etic power measurements were carried out. Results - The autonomic dysfuncti on pattern (mainly cardiac abnormalities, mydriasis) seems to differ somewh at from that of progressive autonomic failure (Shy-Drager syndrome). "Lewy body-like" inclusions were present, in particular in substantia nigra, but also in locus ceruleus and raphe nuclei (cell loss only in locus ceruleus). There were no oligodendroglial, cytoplasmatic inclusions, apparently a mar ker in multiple system atrophy. Proper Lewy bodies were also present. Diffe rences seemed to prevail vs the Shy-Drager syndrome. Various traits: muscul ar weakness pattern (e.g. preferential peroneal distribution), minor elbow contractures, and arrhythmia were reminiscent of Emery-Dreifuss muscle dyst rophy (E-D). Distinguishing features included: hereditary pattern, mydriasi s, and hypohidrosis. Conclusion Conceivably, this disorder is close to, but still not identical with E-D.