TY - JOUR
T1 - Myotonia congenita (Thomsen's disease) report of five cases in a family.
AU - Pusponegoro, Hardiono D.
AU - Zacharia, J.
AU - Passat, J.
PY - 1991
Y1 - 1991
N2 - This report describes 5 out of 8 siblings who were the first cases of myotonia congenita diagnosed in our department. The parents were first cousins. Neither the parents, nor the other family members have myotonia. The affected siblings 4 boys and 1 girl, all showed a very typical myotonia especially after prolonged rest, and it could be worked off with continuing activity. They had a muscular looking body or a herculean proportion. The diagnosis were based upon family history, clinical findings of percussion myotonia, had grip myotania, prominent muscular hypertrophy and confirmed by electromyographic examination revealing myotonic discharges. Since there were some functional impairments, these patients were treated with diphenylhydantoin and then with quinine sulphate, with good results. The patients related parents were much likely to be heterozygous for the same harmful recessive genes, because they had common ancestor. The role of marriage counseling is important in this kind of inherited disease, to prevent the occurrence of this inherited disorder in the next generations.
AB - This report describes 5 out of 8 siblings who were the first cases of myotonia congenita diagnosed in our department. The parents were first cousins. Neither the parents, nor the other family members have myotonia. The affected siblings 4 boys and 1 girl, all showed a very typical myotonia especially after prolonged rest, and it could be worked off with continuing activity. They had a muscular looking body or a herculean proportion. The diagnosis were based upon family history, clinical findings of percussion myotonia, had grip myotania, prominent muscular hypertrophy and confirmed by electromyographic examination revealing myotonic discharges. Since there were some functional impairments, these patients were treated with diphenylhydantoin and then with quinine sulphate, with good results. The patients related parents were much likely to be heterozygous for the same harmful recessive genes, because they had common ancestor. The role of marriage counseling is important in this kind of inherited disease, to prevent the occurrence of this inherited disorder in the next generations.
UR - http://www.scopus.com/inward/record.url?scp=0026163229&partnerID=8YFLogxK
M3 - Article
C2 - 1896199
AN - SCOPUS:0026163229
SN - 0030-9311
VL - 31
SP - 170
EP - 178
JO - Paediatrica Indonesiana
JF - Paediatrica Indonesiana
IS - 5-6
ER -