The estimated carrier prevalence is 1:100. A 1990–1996 study of Europeans calculated the incidence rate was 2.8:100,000. The prevalence rate of FRDA in Japan is 1:1,000,000.FRDA follows the same pattern as haplogroup R1b. Haplogroup R1b is the most frequently occurring paternal lineage in Western Europe. FRDA and Haplogroup R1b are more common in northern Spain, Ireland, and France, rare in Russia and Scandinavia, and follow a gradient through central and eastern Europe. A population carrying the disease went through a population bottleneck in the Franco-Cantabrian region during the last ice age. History
The condition is named after the 1860s German pathologist and neurologist, Nikolaus Friedreich. Friedreich reported the disease in 1863 at the University of Heidelberg. Further observations appeared in a paper in 1876.Frantz Fanon wrote his medical thesis on FRDA, in 1951.A 1984 Canadian study traced 40 cases to one common ancestral couple arriving in New France in 1634.FRDA was first linked to a GAA repeat expansion on chromosome 9 in 1996. Research
Active research is ongoing to find a treatment. Patients can enroll in a registry to make clinical trial recruiting easier. The Friedreichs Ataxia Global Patient Registry is the only worldwide registry of Friedreichs ataxia patients to characterize the symptoms and establish the rate of disease progression. The Friedreichs Ataxia App is the only global community app which enables novel forms of research.As of May 2021, research continues along the following paths. Improve mitochondrial function and reduce oxidative stress
Reata Pharmaceuticals developed RTA 408 (Omaveloxolone or Omav) to target activation of a transcriptional factor, Nrf2.
A myringotomy, in which a small incision is made in the eardrum, may be helpful for patients with fluid accumulation in the ears. Hearing aids may be useful, and speech therapy may help children with hearing loss communicate more effectively.Certain medications can be used to treat heart abnormalities, asthma-like episodes, and chronic infections associated with MPS-VI. Anti-inflammatory medications may be of benefit. Respiratory insufficiency may require treatment with supplemental oxygen. Aggressive management of airway secretions is necessary as well. Sleep apnea may be treated with a CPAP or BPAP device. Prognosis
The life expectancy of individuals with MPS VI varies depending on the severity of symptoms. Without treatment, some individuals may survive through late childhood or early adolescence. People with milder forms of the disorder usually live into adulthood, although they may have reduced life expectancy. Heart disease and airway obstruction are major causes of death in people with Maroteaux–Lamy syndrome. Epidemiology
Males and females are affected equally. Studies have shown a birth prevalence between 1 in 43,261 and 1 in 1,505,160 live births. These numbers are likely an underestimate of the true number of cases, because newborn screening for MPS-VI is not widely available. Although studies have not revealed an ethnic predisposition, certain groups with a high degree of consanguinity have a higher prevalence of MPS-VI. For example, one study of a population of Turkish immigrants in Germany revealed that this group had a rate of 1 in 43,261; this was approximately ten times higher than the rate of MPS-VI in non-Turkish Germans.