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


METHODS
Pupillometry, evaporimetry, and isokinetic power measurements were carried out.


RESULTS
The autonomic dysfunction pattern (mainly cardiac abnormalities, mydriasis) seems to differ somewhat 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 marker in multiple system atrophy. Proper Lewy bodies were also present. Differences seemed to prevail vs the Shy-Drager syndrome. Various traits: muscular weakness pattern (e.g. preferential peroneal distribution), minor elbow contractures, and arrhythmia were reminiscent of Emery-Dreifuss muscle dystrophy (E-D). Distinguishing features included: hereditary pattern, mydriasis, and hypohidrosis.


CONCLUSIONS
Conceivably, this disorder is close to, but still not identical with E-D.
Sjaastad
O
O
Department of Neurology and the Laboratory for the study of autonomic disorders, Trondheim University Hospital, Norway. berit.mjoen@medisin.ntnu.no
Lindboe
C F
CF
Schaanning
J
J
Brodtkorb
E
E
Kearney
M
M
Hovig
T
T
Salvesen
R
R
Haugnes
T
T
Rokseth
R
R
Smethurst
H B
HB
Sand
T
T
Dale
L G
LG
Bathen
J
J
D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000235:genetics / Q000473:pathology; D001342:Autonomic Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology; D015878:Mydriasis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012131:Respiratory Insufficiency / Q000235:genetics / Q000473:pathology; D012791:Shy-Drager Syndrome / Q000175:diagnosis; D013577:Syndrome