Harding ataxia
Harding Ataxia is a rare, genetic, neurological disorder characterized by the progressive loss of balance and coordination (ataxia), involuntary eye movements (nystagmus), and abnormal speech (dysarthria).
Symptoms[edit | edit source]
The symptoms of Harding Ataxia typically begin in early adulthood and may include:
- Ataxia - This is the primary symptom of Harding Ataxia. It is characterized by a lack of muscle control during voluntary movements, resulting in a lack of balance and coordination.
- Nystagmus - This is a condition that causes involuntary eye movements. In people with Harding Ataxia, these movements can be rapid and uncontrollable.
- Dysarthria - This is a condition that affects the muscles that produce speech, resulting in slurred or slow speech that can be difficult to understand.
Causes[edit | edit source]
Harding Ataxia is caused by mutations in the CACNA1A gene. This gene provides instructions for making a protein that is involved in the transport of calcium ions into cells. The mutations that cause Harding Ataxia result in a reduction of this protein, which disrupts the normal function of nerve cells, leading to the symptoms of the disorder.
Diagnosis[edit | edit source]
The diagnosis of Harding Ataxia is based on the presence of characteristic neurological symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include:
- Genetic testing - This can confirm a diagnosis by identifying a mutation in the CACNA1A gene.
- Neurological examination - This may include tests of balance, coordination, and eye movements.
Treatment[edit | edit source]
There is currently no cure for Harding Ataxia. Treatment is symptomatic and supportive, and may include:
- Physical therapy - This can help improve balance and coordination.
- Speech therapy - This can help manage dysarthria.
- Medication - Certain medications may be used to manage symptoms such as tremors or muscle stiffness.
See also[edit | edit source]
- Ataxia
- Nystagmus
- Dysarthria
- CACNA1A
- Genetic testing
- Neurological examination
- Physical therapy
- Speech therapy
- Medication
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Contributors: Prab R. Tumpati, MD