Ying Zhou1, Jianhua Yi2, Li Liu3, Xiaoping Wang4, Liang Dong1, Ailian Du4. 1. a Department of Cardiology , Second Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou , China. 2. b Department of Emergency Medicine , Second Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou , China. 3. c Mitochondrial Disease Research Center, Institute of Genetics , College of Life Science, Zhejiang University , Hangzhou , China. 4. d Department of Neurology , Tongren Hospital, Shanghai Jiaotong University School of Medicine , Shanghai , China.
Abstract
BACKGROUND: Mitochondrial myopathies (MMs) are mainly presented with chronic muscle weakness and accompanied with other syndromes. MM with acute respiratory insufficiency is rare. AIMS: To reveal the clinical, pathological and molecular characteristics of a life-threatening MM. METHODS: Muscle biopsy and enzyme staining were performed in skeletal muscles. Mitochondrial DNA (mtDNA) sequencing was analyzed and heteroplasmy were quantified by pyrosequencing. RESULTS: All three patients had tachycardia, acute lactic acidosis, dyspnea and sudden severe muscle weakness. Two patients had calf edema and abdominal pain, and one had a heart attack. Electromyography in two patients showed dramatically decreased axonal amplitudes of motor nerves. Muscle biopsies showed ragged red fibers and dramatic mitochondrial abnormality. A mtDNA m.3243A>G mutation was identified in Patient 1 (mutation load: 29% in blood and 73% in muscle) and Patient 3 (79% in blood and 89% in muscle). A mtDNA m.8344A>G mutation was found in Patient 2 (mutation load 80.4% in blood). CONCLUSION: MM characterized by lactic acidosis, respiratory failure and acute motor axonal neuropathy is life threatening.
BACKGROUND:Mitochondrial myopathies (MMs) are mainly presented with chronic muscle weakness and accompanied with other syndromes. MM with acute respiratory insufficiency is rare. AIMS: To reveal the clinical, pathological and molecular characteristics of a life-threatening MM. METHODS: Muscle biopsy and enzyme staining were performed in skeletal muscles. Mitochondrial DNA (mtDNA) sequencing was analyzed and heteroplasmy were quantified by pyrosequencing. RESULTS: All three patients had tachycardia, acute lactic acidosis, dyspnea and sudden severe muscle weakness. Two patients had calfedema and abdominal pain, and one had a heart attack. Electromyography in two patients showed dramatically decreased axonal amplitudes of motor nerves. Muscle biopsies showed ragged red fibers and dramatic mitochondrial abnormality. A mtDNA m.3243A>G mutation was identified in Patient 1 (mutation load: 29% in blood and 73% in muscle) and Patient 3 (79% in blood and 89% in muscle). A mtDNA m.8344A>G mutation was found in Patient 2 (mutation load 80.4% in blood). CONCLUSION: MM characterized by lactic acidosis, respiratory failure and acute motor axonal neuropathy is life threatening.
Entities:
Keywords:
Pure mitochondrial myopathy; acute motor axonal neuropathy; lactic acidosis; pyrosequencing; respiratory failure