Friedreich's ataxia, sometimes called spinocerebellar degeneration, is a genetically inherited disease that affects an individual's ability to walk. The rare condition also causes speech impairment and sensation loss in the legs and arms. Over time, the disease damages portions of the spinal cord and brain, and it can also affect the heart. About one in every forty thousand individuals will be born with Friedreich's ataxia. The condition doesn't have a cure, but it does have multiple available treatments to help deal with symptoms.
Diagnosis typically occurs between ages ten and fifteen, though some cases have been diagnosed as early as two years old, and other patients haven't been diagnosed until they reach their fifties. About seventy-five percent of individuals with Friedreich's ataxia have a comorbid heart condition.
Friedreich's ataxia leads to speech impairment, specifically dysarthria. This condition affects an individual's muscular control of the muscles necessary for speech, which results in altered intelligibility, clarity of speech, and quality of voice. Speech therapy can be used to help Friedreich's ataxia patients maintain their ability to communicate for longer. An individual's motor speech occurs through the action of the cerebellum, the basal ganglia, the sensorimotor cortex, and the Broca's area. To speak clearly, individuals have to use more than a hundred muscles.
In pharmaceutical studies, there were no behavioral treatments to help with dysarthria on a systemic level. But further studies show a patient can receive individually-tailored treatment after a comprehensive assessment. The programs will be different for every patient depending on their speech needs. They might address clarity of articulation, placement of stress on syllables, rate of speech, and respiratory support. The progression of Friedreich's ataxia is different for every patient, so individual programs are necessary to address the different muscles affected.