Clinical details of probands investigated
| Family (LMH) | Age in years at biopsy | Gender | History | Histology | Clinical features of neuromuscular disorders | CK IU/l | IVCT data§ | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| At time of MH biopsy | H thr % | H contr g | C thr mM | C contr g | MH status | ||||||
| *Proband disabled and unable to be tested. Patient screened was next nearest relative. | |||||||||||
| **IVCT conducted before introduction of standardised EMHG diagnostic protocol. | |||||||||||
| § IVCT data. Pre-test twitch of muscle specimens, indicative of specimen viability, were all above 1.0 g for each patient unless highlighted in bold. | |||||||||||
| H thr;, halothane IVCT threshold = % halothane where 0.2 g contracture recorded; C thr, caffeine IVCT threshold = mM concentration of caffeine where 0.2 g contracture recorded; H contr, halothane IVCT contracture = contracture in g following application of 2% halothane; C contr, caffeine IVCT contracture = contracture in g following application of 2 mM caffeine. | |||||||||||
| LMH, Leeds malignant hyperthermia unit,* CCD, central core disease; MH, malignant hyperthermia; MmD, multi-mini core disease; P, proband/index case; HR, heart rate; ETCO, end tidal carbon dioxide test; MMS, muscle masseter spasm; MHS, susceptible to MH following IVCT; MHN, MH normal following IVCT; MHE, MH equivocal following IVCT, clinically considered at risk, indicates positive reaction to one of trigger agents only; B, bolus, rather than incremental administration of 2% halothane. | |||||||||||
| 31 | 37 | F | CCD referral | CCD | No cramps. Numbness and weakness in limbs | 70 | 2.0B** | 2.8 | <8** | 0 | MHS** |
| 32 | 24 | F | Relatives had MH reactions. Postoperative CK 18000, temp. 39.9°C, myoglobinuria | Cores present. | Some cramps in legs | 1000 | 0.5 | 0.6 | − | − | MHS |
| 33 | 24 | M | Poor muscle development, congenital dislocating hips (CDH) Twice, muscle rigidity after suxamethonium, once with cyanosis and temp. 43°C | CCD with dystrophic changes | Scoliosis. No cramps | 1419 | 0.5 | 4.3 | 1 | 0.4 | MHS |
| 34 (1P) | 11 | F | Known case of CCD | CCD | Scoliosis. Weak legs | 35 | 0.5 | 1.1 | 0.5 | 1.55 | MHS |
| 34 (2P) | 32, 37 | F | Known case of CCD. | CCD and nemaline rods | Weak legs | 44 | 2 | 0.2 | 2 | 0.2 | MHS |
| 36 | 28 | F | CCD referral | CCD | Limb weakness. Scoliosis | 131 | >2 | 0.05 | 2 | 0.75 | MHE |
| 37 | 25 | F | After halothane and suxamethonium, MMS with abdominal rigidity. ETCO2 off scale, temp. 40.8°C, CK (5 days postoperatively) 11856 | Core myopathy | No cramps | 913 | 0.5 | 3.1 | 0.5 | 2.9 | MHS |
| 38 | 14 | F | MMS following thiopentone, atropine and suxamethonium | CCD | Scoliosis since childhood | 202 | 0.5 | 2.4 | 0.5 | 1.4 | MHS |
| 39 | 11 | M | ?CCD. After nitrous oxide/halothane, stiff all over.? MH, rectal temp. 38.1°C, CK next day 9970 | Relative’s muscle: cylindrical spirals | Spinal and limb problems. Cramps | 120 | 2.0* | 0.3 | 32* | 0 | MHE* |
| 63 | 41 | F | Muscle rigidity, high CK, hyperthermia with halothane | Core myopathy | Cramps in legs and shoulders | 1828 | 0.5 | 3.25 | 1.5 | 0.45 | MHS |
| 64 | 33 | M | CCD referral | CCD | Cramps in all limbs | 492 | >2 | 0 | 4 | 0 | MHN |
| 65 | 35 | F | MMS after suxamethonium <24hrs stiffness | Core myopathy | No cramps | 422 | 0.5 | 6.1 | 1.5 | 1.5 | MHS |
| 66 | 55 | M | After sevoflurane, increased ETCO, HR 145, temp. 38.4°C | Core myopathy | No cramps | 953 | 1 | 1 | 2 | 0.2 | MHS |
| 67 | 27 | F | After isoflurane, increased ETCO2 and HR, temp. 37.3°C, CK 56 | Core myopathy | No cramps | 41 | 2 | 0.5 | 1.5 | 0.5 | MHS |
| 68 | 50 | F | CCD referral | CCD | No cramps. Weakness in legs | 244 | >2 | 0 | 3 | 0 | MHN |
| 69 | 15 | F | Muscle disease since childhood, ?limb girdle dystrophy. After sevoflurane, ETCO2 6.6, HR 165, temp. 38.5°C, CK920 | Features of CCD | No cramps. Weakness arms and legs; some wasting. Scoliosis | 1301 | 0.5 | 4.55 | 1 | 1.45 | MHS |
| 70 | 10 | F | Known case of CCD/MmD. Poor muscle bulk. | CCD | No cramps. Weak limbs | 44 | >2 | 0 | 4 | 0 | MHN |
| 71 | 38 | M | After halothane, temp. 39°C, CK 779 | Core myopathy | No cramps | 83 | >2 | 0 | 4 | 0 | MHN |
| 72 | 29 | M | After isoflurane, HR 120, ETCO210.2, temp. 39.5°C, muscle rigidity, CK 48000, myoglobinuria., muscle pain | Core myopathy | Weakness in legs | − | 1 | 2.1 | 1 | 1.45 | MHS |
| 73 (1P) | 62 | F | Family history of CCD32 | Ice crystal artefacts | No cramps | 29 | 2 | 0.75 | 1 | 1.3 | MHS |
| 73 (2P) | 19 | M | Grandmother CCD. MMS after fractured arm age 11 | Myopathic changes | No cramps | 1324 | 1 | 2.7 | 1.5 | 1.05 | MHS |
| 74 | 10 | F | Known case of CCD | CCD | Proximal muscle weakness | 52 | >2 | 0 | 3 | 0.1 | MHN |
| 75 | 41 | F | After desflurane, ETCO210.5, increased a HR, temp. 39.8°C, CK 1621 | Type 2b atrophy | No cramps | 74 | 1 | 0.7 | 3 | 0 | MHE |