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A FAMILY WITH PARAMYOTONIA CONGENITA WITH THE REPORT OF AN AUTOPSY
Author(s) -
De Jong J. G. Y.,
Slooff J. L.,
Van Der Eerden A. A. J. J.
Publication year - 1973
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1973.tb01321.x
Subject(s) - autopsy , atrophy , paresis , family history , medicine , anatomy , paralysis , electromyography , myotonia , pathology , myotonic dystrophy , surgery , physical medicine and rehabilitation
A family having paramyotonia congenita was observed through following up a few members over a period of 19 years. The natural history of the syndrome is outlined. This bears out the character of the disease as an entity fully independent of other myotonic conditions. At later age, an increased stiffening of desmogenic nature occurs in the wrist and finger joints. Four members got paralysis agitans. The significance of this feature is discussed. One family member came to post‐mortem. In the central nervous system, none but the normal age‐induced alterations were observed. A discussion is given of the changes in the muscle fibres. These did not show any clearly preferred localisation. In the eye, atrophy of the ciliary body was found.