Thursday, August 7, 2025
The Tiger Milk Medicinal Mushroom Lignosus rhinocerus (Agaricomycetes) Mitigates Oxidative Damage in a Cellular Model Mimicking Friedreich's Ataxia
Muscle Endurance Training in a Person with Friedreich's Ataxia
McGarrell NT, Green ME, McCully KK. Muscle Endurance Training in a Person with Friedreich's Ataxia. Muscles. 2025 Jan 9;4(1):1. doi: 10.3390/muscles4010001. PMID: 40757576; PMCID: PMC12121318.
Friedreich's ataxia (FRDA) results from a faulty mitochondrial protein known as Frataxin. The purpose of this case report was to test whether skeletal muscle in FRDA can adapt to an endurance-based training program using neuromuscular electrical stimulation (NMES)Muscle adaptations to endurance training were seen in FRDA, but increased training might be needed to test if mitochondrial capacity can improve.
Hypertrophic cardiomyopathy with ataxic gait: a cardiac clue to a neurologic diagnosis
Saha S, Jha A, Yadaw M, Tiwari B. Hypertrophic cardiomyopathy with ataxic gait: a cardiac clue to a neurologic diagnosis. BMJ Case Rep. 2025 Aug 4;18(8):e265662. doi: 10.1136/bcr-2025-265662. PMID: 40759502.
In this case report, we describe a case of non-sarcomeric paediatric HCM associated with mitochondrial disorder (Friedreich's ataxia). Friedreich's ataxia is a neurodegenerative disorder caused by a homozygous GAA triplet repeat expansion in the Frataxin gene. Symptoms include progressive ataxia, dysarthria, peripheral neuropathy and diabetes mellitus. Cardiovascular involvement, often presenting as HCM, emerges during adolescence and affects nearly two-thirds of patients. This case also highlights the importance of genetic analysis in paediatric cardiomyopathies.
