Anaesthesia recommendations for patients suffering from central core disease
Guidelines from OrphanAnesthesia, a project of the German Society of Anesthesiology and Intensive Care, who prepare and publish concise recommendations for anaesthetists and patients to help in planning and performing anaesthesia in patients suffering from rare diseases. In this issue we look at the inherited neuromuscular disorder central core disease.
Disease name: Central Core disease
ICD 10: G71.2
Synonyms: Shy-McGee syndrome
Central core disease (CCD) is an inherited (mostly dominant) neuromuscular disorder characterised by central cores in type I fibres on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown because of variable expression and incomplete penetrance. Associated in approximately 25 per cent of cases with malignant hyperthermia because of gene proximity or overlap: the mutation then involves gene RYR1 (19q13.1-13.2). In rare cases, the recessive transmission gene MYH7 (14q11.1) is involved. Multiminicore, minicore myopathy and core-rod myopathy are closely related to central core disease and probably carry the same risk for malignant hyperthermia.
CCD typically presents in infancy with hypotonia and motor developmental delay and is characterised by predominantly proximal weakness, pronounced in the hip girdle.
Muscle biopsy to confirm diagnosis followed by orthopaedic surgery to correct talipes equinovarus, scoliosis or dislocation of the hip or the patella.
Type of anaesthesia
Succinylcholine and volatile anaesthetics have to be strictly avoided.
General anaesthesia (total intravenous anaesthesia) or regional anaesthesia can both be performed without complications. There are reports about the uneventful performance of spinal as well as epidural anaesthesia or a combination of both. There is no contraindication for (analgo-) sedation besides the common restrictions.
Necessary additional diagnostic procedures (preoperative)
Cardiac function is not typically impaired in patients with CCD, so preoperative cardiac function tests are not obligatory. There are some reports of cardiac involvement – and in this case, and in cases of severe scoliosis, preoperative echocardiography is necessary.
In some cases of recessive inheritance with neonatal onset, the respiratory system is impaired and lung function tests may be considered; this is also recommended for patients with severe scoliosis. If muscular weakness is present and regional anaesthesia is planned, neurological consultation is helpful for juridical reasons.
Determination of preoperative creatine kinase level is not mandatory, but may be helpful in case of perioperative complications (eg. rhabdomyolysis or malignant hyperthermia).
Particular preparation for airway management
Particular preparation for transfusion or administration of blood products
There is one small study showing a higher intraoperative blood loss during surgery for scoliosis in patients with neuromuscular diseases in general compared with idiopathic scoliosis. In CCD there is no evidence of bleeding abnormalities.
Particular preparation for anticoagulation
Particular precautions for positioning, transport or mobilisation
Probable interaction between anaesthetic agents and patient’s long-term medication
Succinylcholine and any volatile anaesthetic should be avoided because of the risk of malignant hyperthermia.
Use of opiates (remifentanil, alfentanil, fentanyl, morphine), intravenous anaesthetics (propofol, midazolame), nitrous oxide, local anaesthetics (ropivacaine, bupivacaine) and non-depolarising muscle relaxants (rocuronium, pancuronium) has been reported without complications.
When using non-depolarising muscle relaxants, no prolonged neuromuscular blockade is reported. Antagonisation of neuromuscular blockade with neostigmine was reported as uneventful.
There is no need for prophylactic postoperative ventilation.
Particular or additional monitoring
Monitoring of the neuromuscular blockade is recommended.
All CCD patients are highly susceptible to malignant hyperthermia. Although there are no reports about the prolonged effects of non-depolarising muscle relaxants, they cannot be excluded. Therefore, monitoring of the neuromuscular blockade is recommended.
Avoid prolonged immobilisation. Accompanying muscular atrophy may worsen disease.
The degree of postoperative supervision required depends on the surgical procedure undertaken and the preoperative condition of the patient. Intensive care is not mandatory.
Emergency-like situations/Differential diagnostics
Information about emergency-like situations caused by the illness can provide a useful tool to distinguish between a side-effect of the anaesthetic procedure and a manifestation of the disease.
- Disease-triggered emergency-like situations are not common in CCD.
- Respiratory function can be more likely to be impaired in cases of acute respiratory tract infection.
In cases of stable disease without respiratory impairment, ambulatory anaesthesia is possible according to common guidelines.
Obstetric anaesthesia can be carried out as usual (without succinylcholine and volatiles), as can regional anaesthesia. Be aware that in most neuromuscular disorders disease progression can occur during pregnancy.
Use of syntocinon has been reported without complications.
After the use of dantrolene (treatment in case of malignant hyperthermia) uterine atony is reported.
Because of inheritance of the disease there is the possibility of impaired newborns with muscular hypotonia or respiratory distress.
These guidelines were published online at OrphanAnesthesia.eu and as an online supplement to the medical journal A&I (Anaesthesiologie & Intensivmedizin). Reprinted here with permission from OrphanAnaesthesia.
For references, literature and useful links, click here
Tino Münster, anaesthesiologist, University-hospital Erlangen, Germany
Peer revision 1: Francis Veyckemans, anaesthesiologist, University-hospital St. Luc, Bruxels, Belgium email@example.com
Peer revision 2: Maggie Walter, neurologist, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Germany firstname.lastname@example.org
Benedikt Schosser, neurologist, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Germany email@example.com