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All the best freaks are here, all the best freaks are here
Please stop staring at me
Freaks/Marillion
Lyrics: Derick Dick
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What is Friedreich's ataxia?
Friedreich's ataxia was the first form of hereditary ataxia to be distinguished from other forms of ataxia. It is named after the German doctor, Nikolaus Friedreich, who first described it in 1863.
What are the major symptoms of Friedreich's ataxia?
The symptoms of Friedreich's ataxia usually become noticeable
during the early teenage years, although in occasional
individuals the diagnosis has been made as early as age 2 or as late as age 25. The first symptoms are usually difficulty with balance (dysequilibrium), impaired coordination of the legs or arms (ataxia), and thick or slurred speech (dysarthria).
As time goes on, individuals with Friedreich's ataxia often
notice worsening of their coordination and speech, difficulty
knowing where their feet or hands are in space (impaired position sense), and weakness and loss of muscle bulk in the legs and hands. Curvature of the spine (kyphoscoliosis) and high arches in the feet (pes cavus) develop, and may require treatment. Enlargement of the heart, irregular heartbeat, or other symptoms of heart trouble (cardiomyopathy) occur in most individuals with Friedreich's ataxia; the heart trouble may be very mild, but in most cases it can be severe.
What other symptoms might occur?
About 10% of people with Friedreich's ataxia have hearing loss. A similar percent develop loss of visual acuity or changes in color vision. Most have jerky eye movements (nystagmus), but these movements by themselves do not usually interfere with vision. About 50% of people develop trouble controlling their urge to urinate (urinary urgency), or incontinence. A significant percentage of people with Friedreich's develop diabetes mellitus, and some patients develop hypothyroidism.
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