Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed

G Islander; K G Henriksson; E Ranklev-Twetman

doi:10.1016/0960-8966(94)00038-b

Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed

Neuromuscul Disord. 1995 Mar;5(2):125-7. doi: 10.1016/0960-8966(94)00038-b.

Authors

G Islander¹, K G Henriksson, E Ranklev-Twetman

Affiliation

¹ Department of Anaesthesiology, University Hospital, Lund, Sweden.

PMID: 7767091
DOI: 10.1016/0960-8966(94)00038-b

Abstract

Central Core Disease (CCD) is a myopathy closely linked to malignant hyperthermia (MH) susceptibility. We present a family with a girl suffering from CCD. Due to the CCD diagnosis, all available relatives were investigated for MH-susceptibility. No other family member has CCD. In vitro contracture tests revealed that several relatives are MH-susceptible. Thus our results suggest that healthy members of families with CCD could be at risk for being malignant hyperthermia susceptible.

MeSH terms

Child
Disease Susceptibility
Female
Histocytochemistry
Histological Techniques
Humans
Malignant Hyperthermia / complications*
Malignant Hyperthermia / genetics*
Muscles / chemistry
Muscles / pathology
Myopathies, Nemaline / complications*
Myopathies, Nemaline / genetics*
Pedigree