Hereditary Ataxias are a group of genetic disorders characterized by progressive neurodegeneration of the cerebellum and its projections and results in neurological symptoms such as ataxia of limb, gait and stance, oculomotor impairments and speech impairment (changes in speech).
Speech impairment is ubiquitous in many Hereditary Ataxias and is often considered a sensitive marker of disease progression and treatment response. Speech is however, rarely investigated and when considered, limited natural history data are available. Currently, researchers worldwide are attempting to address this, but due to a lack of harmonisation and standardisation, research is often fragmented.
We have developed SpeechATAXIA, a global initiative for speech in hereditary ataxias. The objective of SpeechATAXIA consortium is to
- Standardise speech acquisition protocols and hardware requirements across the global initiative
- Define a set of data that will serve as the standard for future sharing of data
- Use shared information and resources to facilitate accelerated research and translation
If you are interested in finding out more or you would like to express your interest in becoming a member of the SpeechATAXIA consortium, please contact us.