Neuromuscular Manifestations in Mitochondrial Diseases in Children

Mitochondrial diseases (MiDs) exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of ATP, via oxidative phosphorylation (OXPHOS).These disorders may be developed at any age, with isolated or multiple system involvement, and in any pattern of inheritance. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle and peripheral nerves, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extra ocular muscles and results in droopy eyelids (ptosis), progressive external ophthalmoplegia, peripheral ataxia and peripheral polyneuropathy.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research