Introduction/Objective ATP8A2 mutations are characterized by global developmental delay, severe hypotonia and hyperkinetic movement disorders and optic atrophy. To present a case report on 2 siblings presenting with myopathy and movement disorders.

Methods Baby T is a 2y old toddler referred for concerns of abnormal movements, hypotonia and global developmental delay.He was 6th born to first degree consanguineous couple. Mother reported an uneventful antenatal history.He was born at 8months of gestation by LSCS due to transverse lie with average birth weight followed by uneventful postnatal period.By 2years of age, he was yet to achieve head control but had no feeding or breathing concerns.Family history was notable for an older sibling with similar history of global developmental delay, right eye squint with ptosis and choreoathetosis. Mother had had a bad obstetric history with history of anencephaly,hydrops and miscarriage in previous 3 respective pregnancies. On neurological examination he was noted to be alert with myopathic facies, bilateral ptosis,ophthalmoplegia noted in left eye and bilateral optic atrophy, global hypotonia with absent DTRs, choreo-athetoid movements in all extremities, occasional dystonia and scoliosis. Results Metabolic investigations and EMG were negative. MRI brain showed demyelination. WES done reported pathogenic variant identified in ATP8A2 gene in both the index patient and older sibling. Conclusion Patients with ATP8A2 genetic mutation have characteristic phenotypic of developmental delay,myopathy,severe hypotonia, choreoathetosis and optic atrophy. An awareness of this gamut of clinical manifestations can assist in clinical suspicion, targeted genetic testing and prognostication of this rare combination of myopathy with movement disorder

Sukanya Vrushabhendra
Al Jalila Children`s Specialty Hospital, Dubai
United Arab Emirates

Mohamed Babiker
Al Jalila Children`s Specialty Hospital
United Arab Emirates