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Ataxia
A- without Taxia- order (Definitions from Oxford Languages)
In other words, without control
Ataxia stands for a group of neurodegenerative diseases that affect speech, balance, and general coordination of individuals. Many diverse types of ataxias have been described yet many of us have never heard about ataxias.
Have you ever heard about Machado-Joseph diseases? No, well you have now.
Machado-Joseph disease was identified in 1972 in members of the Wiliam Machado and Antone Joseph families, Azorean immigrants in Massachusetts.
Did you know?
The highest prevalence of this disease is in the Flores Island population in Azores (Portugal).
Machado-Joseph or Spinocerebellar ataxi type 3 (SCA3) is abnormal expansion of trinucleotide "CAG" repeats in the ATXN3 gene
Let's simplify:
1- spinocerebellar means it affects cerebellum the red structure identified in the present image.
Cerebellum is extremely important for walking, balance, coordination, eye movements, and speech.
2- abnormal expansion of trinucleotide is a mutation characterized by an increase in the copy number of a repeated unit of nucleotides.
This mutation will lead to abnormal production of proteins disrupting the proteostases (protein equilibrium). When this equilibrium is lost our cells start dying unexpectedly leading to the disease symptoms such as ophthalmoplegia (paralysis of the eye muscles), loss muscle control and motor coordination in the upper and lower limbs, difficulties in speech and swallowing.
Machado- Joseph it's a rare genetic disease and unfortunately, there's no cure, despite the development of new diagnostic tools and management medications people live with less severe symptoms.
References
Lavin, P. (2014). Ophthalmoplegia. Elsevier EBooks, 651–652. https://doi.org/10.1016/b978-0-12-385157-4.00146-9
Neurological news from Portugal IV - Machado-Joseph Disease: from past to future - eanpages. (2018, March 31). Eanpages. https://www.eanpages.org/2018/04/01/neurological-news-from-portugal-iv-machado-joseph-disease-from-past-to-future/
Maria, C., Vanessa Bielefeldt Leotti, Amanda Henz Cappelli, Anastacia Guimarães Rocha, Ecco, G., Bolzan, G., Kersting, N., Maria‐Luiza Saraiva‐Pereira, & Laura Bannach Jardim. (2022). Progression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado‐Joseph Disease. Movement Disorders, 38(1), 26–34. https://doi.org/10.1002/mds.29226
Spinocerebellar Ataxias including Machado-Joseph Disease. (2023). National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/health-information/disorders/spinocerebellar-ataxias-including-machado-joseph-disease#:~:text=SCA3%20
NHS Choices. (2023). Overview - Ataxia. https://www.nhs.uk/conditions/ataxia/#:~:text=Ataxia%20is%20a%20term%20for,swallowing
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