Objective: The phenotypic spectrum in dystonic syndromes in ATP1A3-related disorders is wide. History of drug-refractory seizures, developemental delay, incoordination,  dysarthria and dysphagia and movement disorders have been described.

Background: The phenotypic spectrum in dystonic syndromes in ATP1A3-related disorders is wide. History of drug-refractory seizures, developemental delay, incoordination,  dysarthria and dysphagia and movement disorders have been described.

Method: A child with clinical history at the beggining of seizures and dyskinetic movements examined in a movement disorder and neurogenetics reference center in Brazil.

Results: A 2 month-year-old girl started refractory focal seizures. At 18 months old, she started occasional episodes of erythema in the morning, with progressive improvement throughout the day. At 2 years old, she presented episodes of intense irritability and choreoathetosis. When she was 3 years old, she started recurrent episodes of convergent strabismus and exotropia of the right eye. 7 months later, she had a sudden episode of right hemiparesis with gradual spontaneous improvement after a few hours. At the age of 5 years old, she was hospitalized because of worsening seizures during a febrile illness, with developmental regression and refractory choreoathetosis. Neurologic examination showed global hypotonia, quadriparesis, mild choreoathetosis and occasional dystonic postures of hands and feet. Brain MRI showed global cerebral atrophy. Whole exome sequencing demonstrated a heterozygous missense likely pathogenic variant in the ATP1A3 gene (c.2225A>T; p.Asp742Val).

Conclusion: ATP1A3-related disorders represent an expanding spectrum of clinical manifestations with 3 classical phenotypes: rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood (AHC) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss). Overlapping syndromes and atypical manifestations have been described.

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/atp1a3-related-disorder-overlapping-syndrome-a-case-report/