What is Friedreich’s ataxia?
Friedreich’s ataxia is a condition that affects a person’s coordination, balance and speech.
What causes Friedreich’s ataxia?
Friedreich’s ataxia is hereditary and is caused by a faulty gene that results in the degeneration of a part of the brain known as the cerebellum or the spinal cord.
It is autosomal recessive, meaning the faulty gene needs to be inherited from both parents in order for the condition to develop.
What are the symptoms of Friedreich’s ataxia?
The symptoms of Friedreich’s ataxia usually begin to show before the age of 25 and gradually get worse over time.
They may include:
- Issues with balance and coordination.
- Dysarthria which involves slurred, slow and unclear speech.
- Increasing weakness in the legs.
- Dysphagia which is difficulty swallowing.
- Scoliosis which is an abnormal curvature of the spine.
- Vision and hearing loss.
- Diabetes.
- Hypertrophic cardiomyopathy which is thickening of the heart muscles and can cause chest pain, breathlessness and an irregular heartbeat.
- Peripheral neuropathy which involves a loss of sensation in the hands and feet.
