Mitochondrial myopathies
RSS feedChallenges facing people with primary mitochondrial myopathy
An article on primary mitochondrial myopathies has been published by the Mitochondrial Medicines Society (MMS) and the United Mitochondrial Disease Foundation (UMDF): it highlights and provides information on the challenges faced by people with this disease: visible and stigmatising symptoms that worsen, reduced autonomy, social isolation, lack of treatment, etc. it encourages professionals and patients … [Read more]
Primary mitochondrial myopathies: elamipretide is well tolerated but does not improve the 6-minute walk test or fatigue
The results of the international MMPOWER-3 trial evaluating the safety and efficacy of double-blind, placebo-controlled subcutaneous elamipretide in 218 adults with primary mitochondrial myopathy have been published: the majority of participants (74%) had a mitochondrial DNA mutation, the others a nuclear DNA mutation; elamipretide subcutaneous for 6 months was well tolerated; neither the gain in … [Read more]
Completely and spontaneously reversible mitochondrial myopathy: an extremely rare case
The literature has already reported a form of mitochondrial myopathy in the newborn, which has the particularity of being self-limiting. This improvement is related to the transient nature of the respiratory chain deficit observed in these young children. This entity is listed as such with the acronym RIRCD for Reversible Infantile Respiratory Chain Deficiency), however, … [Read more]
