The diagnosis varies from individual to individual. Each is evaluated and diagnosed according to age, clinical phenotype, and pressed inheritance pattern. If the individual has been experiencing myoclonus, the doctor will run a series of genetic studies to determine if it is a mitochondrial disorder. The molecular genetic studies are run to identify the reason of for the mutations underlying the mitochondrial dysfunction. This approach will avoid the need for a muscle biopsy or an exhaustive metabolic evaluation. After sequencing the mitochondrial genomes, four points mutations in the genome can be identified which are associated with<unk> : A8344G, T8356C, G8361A, and G8363A. The point mutation A8344G is mostly associated with<unk> , in a study published by Paul Jose Lorenzoni from the Department of neurology at University of Panama stated that 80% of the patients with<unk>  disease exhibited this point mutation. The remaining mutations only account for 10% of cases, and the remaining 10% of the patients with<unk>  did not have an identifiable mutation in the mitochondrial DNA. If a patient does not exhibit mitochondrial DNA mutations, there are other ways that they can be diagnosed with<unk> . They can go through computed tomography (CT) or magnetic resonance imaging (MRI).The classification for the severity of<unk>  is difficult to distinguish since most individuals will exhibit multi-symptoms. This is often necessary for children with complex neurologic or multi-system involvement, as described below. History and physical examination of the patient A detailed family history should be obtained from at least three generations, particularly if there have been any neonatal and childhood deaths. A family history may also indicate if any family members exhibit features of the multi-system disease, specifically if there has been maternal inheritance. This would show transmission of the disease only to females, or if there is a family member who experienced a multi-system involvement such as: brain condition that a family member has been record to have such as seizures, dystonia, ataxia, or stroke-like episodes. There may also be optic atrophy, skeletal muscle with a history of myalgia, weakness, or ptosis. Family history may also include neuropathy and dysautonomia, or heart conditions such as cardiomyopathy. The patient's history might also exhibit kidney problems, such as proximal nephron dysfunction. There may also be endocrine conditions, such as diabetes or hypoparathyroidism. The patient might have also had a gastrointestinal condition which could have been due to liver disease, as well as episodes of nausea or vomiting. Multiple lipomas in the skin, sideroblastic anemia and pancytopenia in the metabolic system, or short stature might all be examples of patients with possible symptoms of<unk>  disease.
MERRF syndrome
Hagemoser–Weinstein–Bresnick syndrome
VEXAS syndrome
Hughes–Stovin syndrome
Smith–Fineman–Myers syndrome
Crome syndrome
RIDDLE syndrome
3-M syndrome