ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Synonyms: CLN12 disease | Juvenile parkinsonism-neuronal ceroid lipofuscinosis
A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia bulbar syndrome (manifesting with dysarthria dysphagia and dysphonia) pyramidal and extrapyramidal involvement (including myoclonus amyotrophy unsteady gait akinesia rigidity dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version June 2023.
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ATP13A2-related juvenile neuronal ceroid lipofuscinosis?
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For a list of clinical trials in this disease area, please click here.