Multisystem disease with autosomal dominant trait
Presentation in 15-35 year olds
Features:
- Myotonia – increased muscle tone after contraction, execrbated by cold, stress
- Cardiomyopathy + conduction defects
- Respiratory muscle weakness, poor central control of respiration ->leading to respiratory failure
- Central and obstructive sleep apneoa
- Cognitive defects
- weakness in forearm and calf muscles
- Thyroid and adrenal impairment
- Poor bulbar function + Delayed gastric emptying
- Sensitivity to IV anaesthetic agents, opioids, NMBA
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