Dystonia 28

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Dystonia 28

Synonyms: DYT28 | KMT2B-related dystonia

A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs trunk face and neck. Variable developmental delay and intellectual disability as well as mild microcephaly short stature abnormal eye movements and slightly dysmorphic facial features have been reported in association.

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 April 2024

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Dystonia 28?

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