Harding ataxia

From WikiMD's Wellness Encyclopedia

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:

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]


Harding ataxia Resources

Contributors: Prab R. Tumpati, MD