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GTR Home > Conditions/Phenotypes > Dystonia, early-onset, and/or spastic paraplegia

Dystonia, early-onset, and/or spastic paraplegia

Summary

Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant neurologic movement disorder characterized by phenotypic variability, even within the same family. Some patients have onset of progressive focal and generalized dystonia in the first decade, as young as infancy, whereas others develop progressive spastic paraplegia as adults, suggesting that age affects the phenotype. Some patients have manifestations of both disorders. Most patients have ambulation difficulties (Gilbert et al., 2009). Rare patients may show hypotonia and neurodevelopmental delay (Zech et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ATP5G3, DYTSPG, P3, ATP5MC3
    Summary: ATP synthase membrane subunit c locus 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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