Preoperative abnormalities

1. Features include generalised myotonia, with muscles that are stiff and firm, short stature, pinched face and small mouth, low-set ears, and blepharospasm. Feeding difficulties, choking fits and feeding apnoeas are common.There is a characteristic gait, with bowing of long bones together with contractures.

2. Ocular abnormalities.

3. Thermoregulatory dysfunction.

4. EMG shows high-frequency discharges in facial muscles and distal muscles of hands and legs (Ishpekova et al 1996).

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