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- W4386822547 abstract "Case presentation: JRCS, female, started, at 15 years old, dysphagia initially for solids, progressing to liquids, hand dystonia and anarthria after isolated fever. At the time she was admitted to another pediatric center for diagnostic investigation, with normal brain MRI, EEG and ENMG. History of mother with undiagnosed psychiatric disorder and progressive gait dysfunction. At age 16 she was hospitalized for malnutrition associated with worsening abnormal movements. Neurological examination evidenced: preserved cognition, motor aphasia, hypomimia, dysphagia, sialorrhea, absence of vomiting reflex; reduced tongue motricity with preserved sensitivity, no myofasciculations; generalized hypotrophy, left worsening upper limb rigidity, strength grade 4+, normal deep reflexes and indifferent plantar cutaneous reflex, asymmetric hand and foot dystonic posture (worse left), bradykinesia, distal muscle atrophy, no ataxia or dysmetria; preserved sensitivity. On admission the previous tests were repeated, in addition to echocardiogram, abdominal and pelvic ultrasound, chest X-ray, cervical spine MRI, and nasopharyngolaryngoscopy, all normal. The dystonia gene panel identified a mutation in the ATP1A3 gene." @default.
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- W4386822547 date "2023-09-01" @default.
- W4386822547 modified "2023-09-26" @default.
- W4386822547 title "Neurological disorder related to ATP1A3: importance of diagnosis" @default.
- W4386822547 doi "https://doi.org/10.1055/s-0043-1774651" @default.
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