Friedreich's ataxia
| Friedreich's ataxia | |
|---|---|
 |
|
| Frataxin | |
| Classification and external resources | |
| Specialty | neurology |
| ICD-10 | G11.1 |
| ICD-9-CM | 334.0 |
| OMIM | 229300 |
| DiseasesDB | 4980 |
| MedlinePlus | 001411 |
| eMedicine | article/1150420 |
| Patient UK | Friedreich's ataxia |
| MeSH | D005621 |
| GeneReviews | |
Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function. The disease is progressive, and ultimately a wheelchair is required for mobility. Its incidence in the general population is roughly 1 in 50,000.
The particular genetic mutation (expansion of an intronic GAA triplet repeat in the FXN gene) leads to reduced expression of the protein frataxin. Over time this deficiency causes the aforementioned damage, as well as frequent fatigue due to effects on cellular metabolism.
The ataxia of Friedreich's ataxia results from the degeneration of nervous tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath (the insulating covering on some nerve cells that helps conduct nerve impulses).
The condition is named after the German physician Nikolaus Friedreich, who first described it in the 1860s.
Symptoms typically begin sometime between the ages of 5 to 15 years, but in Late Onset FA may occur in the 20s or 30s. Symptoms include any combination, but not necessarily all, of the following:
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