Harding ataxia
Harding Ataxia
Harding Ataxia (pronounced: hahr-ding a-tak-see-uh) is a rare, inherited neurological disorder characterized by a slow, progressive degeneration of the cerebellum, the part of the brain responsible for coordinating movement.
Etymology
The term "Harding Ataxia" is named after the British neurologist, John Harding, who first described the condition in the late 20th century. The word "ataxia" comes from the Greek "a-", meaning "without", and "taxis", meaning "order". Thus, "ataxia" refers to the lack of order or coordination.
Symptoms
Harding Ataxia typically presents in early adulthood and progresses slowly over time. Symptoms may include:
- Gait Ataxia: Difficulty with walking and balance
- Dysarthria: Slurred or slow speech that can be difficult to understand
- Nystagmus: Rapid, involuntary eye movement
- Dysphagia: Difficulty swallowing
Causes
Harding Ataxia is caused by mutations in the ATXN1 gene. This gene provides instructions for making a protein that is involved in regulating other genes. Mutations in the ATXN1 gene disrupt the normal function of this protein, leading to the symptoms of Harding Ataxia.
Diagnosis
Diagnosis of Harding Ataxia is based on clinical examination, patient history, and genetic testing to identify mutations in the ATXN1 gene.
Treatment
There is currently no cure for Harding Ataxia. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and medication to manage symptoms.
See Also
References
- Harding, J. (1981). Classification of the hereditary ataxias and paraplegias. Lancet, 1(8224), 1151–1155.
External links
- Medical encyclopedia article on Harding ataxia
- Wikipedia's article - Harding ataxia
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