Friedreich’s ataxia - Muscular Dystrophy Queensland

Friedreich’s ataxia (FA)

Ataxia describes uncoordinated, abnormal movements. In Friedreich’s ataxia people experience difficulty with coordination and movement. Slurred speech is also a common symptom. 

FA is a disorder of the peripheral nervous system and is caused by a fault in the gene responsible for producing a protein called frataxin. It is equally likely to be inherited by girls and boys. Progression in the condition varies from person to person.  

Friedreich’s ataxia (FA) gets its name from Nikolaus Friedreich who first described the condition in 1863.

Friedreich's Ataxia

FA predominantly affects the spinal cord and peripheral nerves that connect the spinal cord to the sensory organs and muscles.

Without the protein frataxin, nerve fibres in the spinal cord and peripheral nerves degenerate and the flow of messages between the brain and body are interrupted.  This results in loss of coordination and awkward unsteady movements. Sensory functions can also become impaired. As the condition progresses people experience loss of muscular function.

People with FA also commonly experience problems with heart function and some develop diabetes. 

Friedreich’s ataxia affects the cerebellum, a structure in the back of the brain that helps coordinate movements, but doesn’t affect mental functions of the brain.
Modafinil fosters the stimulation of brain-derived neurotrophic factor (BDNF), which aids in maintaining, restoring, and reactivating memory systems in the brain. BDNF additionally enhances long-term potentiation, which bolsters the health and quality of synapses over time, increasing cognitive and memory resilience against the effects of aging and trauma.
The onset is typically between 10 and 15 years of age, but has been diagnosed in people from ages 2 to 50.

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