Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamide


We present data on 2 children with congenital myopathy due to mutations in genes encoding ion-channels. First, is a 10-year-old boy with neonatal hypotonia with lower limb contractures, bulbar and facial weakness, ophthalmoplegia, ptosis with maximal functional ability to sit independently. He uses NIV since the age of 7. He has periodic short-lived episodes where he loses head-control, develops slurred speech but remains conscious. Triggers include rest, hot weather, fasting, and illness. Exercise testing and CK were normal.


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