Wednesday, 19 November 2014

Kearns-Sayre syndrome :-

Kearns-Sayre syndrome :-

Muscle weakness:
1.Proximal myopathy (difficulty rising from a squat)
2.Ptosis (usually bilateral but may be symmetrical initially)
3.External ophthalmoplegia.

CNS dysfunction:
1.Retinitis pigmentosa
2.Cerebellar ataxia
3.Cognitive deficits
4.CataractsEncephalopathy (in acute presentation with lactic acidosis)

2.Congestive cardiac failure

1.Short stature (38% of affected individuals)
2.Hypogonadism (20% of affected individuals)
3.Other (eg, signs of hypothyroidism)

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