Nuclear mitochondrial myopathy [69 genes]

Metabolic myopathies are a group of secondary hereditary muscle diseases of enzymatic defects that affect the metabolic process and production of muscle energy. Some of them are considered to be inborn errors of metabolism and, even though they are rare causes of myopathy, their diagnostic importance lies in that some of them are potentially treatable.

Symptomatology may be similar to other forms of muscular dystrophy or inflammatory myopathies, usually with subtle symptoms, such as asymptomatic elevation of CPK, muscle cramps, myalgia, or myoglobinuria. Their prevalence is unknown: Pompe disease (acid maltase deficiency) affects 1 in 40,000 and McArdle disease 1 in 100,000 individuals.

Their etiology is related to problems in the metabolism of glycogen, lipids, or mitochondrial oxidation. Because of this, we have designed three specific panels for each metabolic pathway and a comprehensive panel that contemplates all of the implicated genes as a whole.

• Isolated mitochondrial respiratory chain complex deficiency
• Combined oxidative phosphorylation defect 
• Pyruvate dehydrogenase deficiency
• Primary coenzyme Q10 deficiency
• Trifunctional protein deficiency
• Progressive external ophthalmoplegia/Hereditary optic neuropathy
• Ethylmalonic/methylglutaconic encephalopathy
• Biotin-thiamine- responsive encephalopathy
• Myopathy with lactic acidosis
• Alpers-Huttenlocher syndrome
• mtDNA depletion syndrome
• Leigh syndrome
• Barth syndrome
• Perrault syndrome
• Sengers syndrome