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Autosomal recessive generalized myotonia
Author(s) -
Zellweger H.,
Pavone L.,
Biondi A.,
Cimino V.,
Gullotta F.,
Hart M.,
Ionasescu V.,
Mollica F.,
Schieken R.
Publication year - 1980
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880030212
Subject(s) - myotonia , myotonia congenita , autosomal recessive trait , electromyography , differential diagnosis , heterozygote advantage , medicine , genetics , trait , pathology , biology , gene , myotonic dystrophy , physical medicine and rehabilitation , genotype , computer science , programming language
Four cases of autosomal recessive generalized myotonia are reported. Attention is drawn to the fact that this condition represents a disease entity distinct from the myotonia congenita of Thomsen, which is transmitted as an autosomal dominant trait. The clinical features of the two conditions are similar, apart from minor quantitative differences. The family history is the major tool for the differential diagnosis. The possibility of the detection of heterozygotes by electromyography is discussed.