Mitochondrial myopathies nuclear gene panel
[79 genes]
| Isolated mitochondrial respiratory chain complexes deficiency |
| Combined oxidative phosphorylation (OXPHOS) deficiency |
| Pyruvate dehydrogenase complex (PDH) deficiency |
| Primary coenzyme Q deficiency |
| Trifunctional protein (TFP) deficiency |
| Progressive external ophthalmoplegia (PEO) / Hereditary optic atrophy |
| Ethylmalonic/methylglutaconic aciduria |
| Thiamine- and biotin-responsive encephalopathy |
| Myopathy with lactic acidosis |
| Alpers-Huttenlocher syndrome |
| mtDNA depletion syndrome |
| Leigh syndrome |
| Barth syndrome |
| Perrault syndrome |
| Sengers syndrome |
Description
Metabolic myopathies are a group of inherited muscular disorders secondary to enzymatic defects affecting metabolism and energy production in muscle. Some of them are considered inherited metabolic diseases and, although they are rare causes of myopathy, their diagnostic relevance lies in the fact that some of them are potentially treatable.
Their symptomatology can mimic other forms of muscular dystrophy or inflammatory myopathies, and they often manifest with subtle symptoms such as asymptomatic CK elevation, muscle cramps,
myalgia, or myoglobinuria. Their prevalence is unknown: Pompe disease (acid maltase deficiency) affects 1/40 000 people, and McArdle disease 1/100 000 people.
Its etiopathogenesis is related to problems in the metabolism of glycogen, lipids or in mitochondrial oxidative phosphorylation. Therefore, we have designed three specific panels for each metabolic pathway and a comprehensive panel that includes the most relevant genes involved in this type of diseases.
REFERENCES- Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010; 10:118.
- Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol 2000; 22:87.
- van Adel BA, Tarnopolsky MA. Metabolic myopathies: update 2009. J Clin Neuromuscul Dis 2009; 10:97.
