TABLE 5.

Specific anaesthesia recommendations for congenital muscular dystrophies (a) and congenital myopathies (b)

Recommendations	SIGN	Median score, modified Delphi process	Respondents who scored ≥7, n	Abstained from voting, n
(a) Specific anaesthesia recommendations for congenital muscular dystrophies
Preoperative recommendations
Evaluate the need for fibre‐optic tracheal intubation in the presence of craniofacial abnormalities. In some forms with spinal rigidity and markedly reduced neck movement (in particular those due to variants in LMNA, COL6A, LAMA2, or SELENON) [80], intubation may be difficult.	3	9	17/17 (100%)	3
Specific attention to potential cardiac involvement should be paid in forms due to variants in LAMA2, LMNA and the alpha‐dystroglycanopathies.	3	9	16/16 (100%)	4
Respiratory involvement should be considered in patients with variants in SELENON, COL6, and LAMA2, and the alpha‐dystroglycanopathies [80].	3	9	15/15 (100%)	5
Intraoperative
More specific considerations depend on the underlying pathology.	4	9	17/17 (100%)	3
There is no association with MH.	4	9	18/18 (100%)	2
We have not found any reports of AIR associated with dystrophies other than DMD and BMD but cannot exclude the hypothetical risk of AIR on exposure to volatile anaesthetics. TIVA and volatile anaesthetics have both been used effectively and safely and should be adapted to the case and surgery in question.	4	8	17/17 (100%)	3
Postoperative
Nutrition needs to be monitored, as reduced muscle mass can cause postoperative hypoglycaemia up to several days after surgery [24, 26].	3	9	15/15 (100%)	5
(b) Specific anaesthesia recommendations for congenital myopathies
Preoperative recommendations
Evaluation of the need for fibre‐optic tracheal intubation in the presence of craniofacial abnormalities. In some forms with spinal rigidity and markedly reduced neck movement (in particular those due to variants in SELENON and NEB), intubation may be difficult.	3	9	17/17 (100%)	3
In XLMTM, liver function tests and coagulation studies should be performed preoperatively because of potentially associated hepatic involvement [18].	3	9	14/14 (100%)	6
Cardiac involvement is common in TTN‐related myopathies and the much rarer forms due to variants in the MYH7 gene.	3	9	16/16 (100%)	4
More specific considerations depend on the underlying pathology. Special attention to relevant respiratory involvement should be given in patients with variants in MTM, NEB, ACTA1, TTN, and RYR1 (in particular recessive variants) [20, 87]. In contrast to the muscular dystrophies, respiratory impairment may be out of proportion to the degree of limb girdle weakness (for example in NEB‐ and SELENON‐associated forms) and must be anticipated with a high degree of suspicion [87, 88].	3	9	16/16 (100%)	4
Intraoperative recommendations
An increased bleeding tendency due to a coagulopathy has been described in patients with myotubular myopathy [18].	3	9	15/16 (93.8%)	4
MH is mainly associated with RYR1 variants [48] that are found in dominantly or recessively inherited RYR1‐related myopathies [45] and the King–Denborough syndrome [49]. Less frequently, MH has also has been described in association with variants in CACNA1S [47] or STAC3 [46]. In the case of (presumed) MH susceptibility, use of volatile anaesthetics and/or succinylcholine is strictly contraindicated [70].	2+	9	19/19 (100%)	1
Nutrition needs to be monitored, as reduced muscle mass can cause postoperative hypoglycaemia up to several days after surgery [24, 26].	3	9	17/17 (100%)	3

Note: For each recommendation, the level of evidence according to the SIGN criteria and the level of agreement are given by the median voting results and the percentage of respondents with a voting result ≥7.

Abbreviations: AIR, anaesthesia‐induced rhabdomyolysis; BMD, Becker muscular dystrophy; DMD, Duchenne muscular dystrophy; MH, malignant hyperthermia; SIGN, Scottish Intercollegiate Guidelines Network; TIVA, total intravenous anaesthesia; XLMTM, X‐linked myotubular myopathy.