Preferred Label : Mitochondrial myopathy with coenzyme Q deficiency;
ICD-11 definition : The encephalomyopathic form of primary Coenzyme Q10 deficiency, described in few families,
is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay,
ataxia, and seizures. Coenzyme Q10 deficiency with isolated mitochondrial myopathy
and without central nervous system involvement is rare. Skeletal muscle histochemical
evaluation reveals ragged red fibers whereas respiratory chain enzyme analyses shows
partial reductions in complex I, I III, and II III activities. The mean Coenzyme
Q10 concentration in skeletal muscle is reduced.;
ICD-11 synonym : CoQ - [Mitochondrial myopathy with coenzyme Q deficiency]; CoQ deficiency; CoQ;
Origin ID : 1096543099;
Automatic exact mappings (from CISMeF team)
The encephalomyopathic form of primary Coenzyme Q10 deficiency, described in few families,
is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay,
ataxia, and seizures. Coenzyme Q10 deficiency with isolated mitochondrial myopathy
and without central nervous system involvement is rare. Skeletal muscle histochemical
evaluation reveals ragged red fibers whereas respiratory chain enzyme analyses shows
partial reductions in complex I, I III, and II III activities. The mean Coenzyme
Q10 concentration in skeletal muscle is reduced.
