Syndromic and Metabolic Cardiomyopathies: Rare Variants for Adults (Glycogen Storage Diseases, Friedreich’s Ataxia)

Turk Kardiyol Dern Ars 2024;52(Suppl 1):S1-S206. In Friedreich’s Ataxia patients, concentric left ventricular hypertrophy is common; asymmetric hypertrophy is very rare. Diastolic wall thickness is usually less than 15 mm, the ejection fraction is preserved, and outflow tract obstruction is typically absent.

Clinical manifestations of Friedreich ataxia in patient with neurofibromatosis seen at Daoud Charity Clinic Sudan: A case report

Abbasher Hussein, Mohajer Ismael, Mohamed Baraka, Abdaleliah Abobker, Wadah Altoom, Osama Suliman, Clinical manifestations of Friedreich ataxia in patient with neurofibromatosis seen at Daoud Charity Clinic Sudan: A case report, Journal of the Neurological Sciences, Volume 480, Supplement, 2025, 125530, ISSN 0022-510X, doi:10.1016/j.jns.2025.125530. 

 The case of Fredrich's ataxia and neurofibromatosis had been reported. Despite this, there was no clear association or overlapping relationship between the two diseases.

Mitochondrial iron overload is associated with lysosomal dysfunction-mediated mitophagy impairment in the heart of Friedreich’s ataxia

Eunbin Jee, Maisha Medha, Hwayoung Baek, Jonghan Kim, Yuho Kim, Mitochondrial iron overload is associated with lysosomal dysfunction-mediated mitophagy impairment in the heart of Friedreich’s ataxia, Mitochondrion, 2026, 102120, ISSN 1567-7249, doi:10.1016/j.mito.2026.102120. 

Collectively, our study provides mechanistic insight into the role of mitochondrial iron aggregates in the pathogenesis of FRDA-related cardiomyopathy and suggests a potential contribution of lysosomal dysfunction to impaired mitochondrial quality control in the context of cardiac frataxin deficiency.

La omaveloxolona recibe luz verde en España como primer tratamiento específico para la Ataxia de Friedreich

Comisión Interministerial de Precios de los Medicamentos 28 de enero de 2026. Skyclarys H* (omaveloxolona): Tratamiento de la ataxia de Friedreich en adultos y adolescentes a partir de los 16 años de edad.