[Misdiagnosis of mitochondrial myopathies: a study of 12 thymectomized patients]. / Errance diagnostique dans les myopathies mitochondriales: étude de 12 patients thymectomisés.

INTRODUCTION: Myasthenia gravis and mitochondrial myopathies have common symptoms (fatigability, ophthalmoplegia) that could lead to diagnosis confusion. METHODS: We systematically reviewed medical history and ancillary investigations regarding 12 patients (7F/5M, mean age 47+/-14 years) having a mitochondrial myopathy but who were previously misdiagnosed as autoimmune myasthenia gravis and in whom a thymectomy was performed. RESULTS: Ocular palsy, ptosis and bulbar palsy were present in all patients. Limb fatigability was present in 9 cases. Symptoms were fluctuant but without remission. The misdiagnosis of myasthenia was based on the following arguments: 1) decremental EMG response (2 cases); 2) positive injectable anticholinesterase drugs test (3 cases); 3) partial response to oral anticholinesterase medications (2 cases); 4) AChR antibodies titer of 0.6 nM considered as positive (1 case). A multisystemic involvement was present in 5 patients: peripheral neuropathy (2 cases), deafness (2 cases), cardiopathy (3 cases), cerebellar involvement (2 cases) and myoclonia (1 case). The diagnosis of mitochondrial myopathy (at a mean age of 38+/-12 years) has been certified on the results of muscle biopsy showing mitochondrial proliferation (12 cases) and deleted mitochondrial DNA (8 cases). CONCLUSIONS: In a patient presenting with oculomotor symptoms and muscle fatigability, progressive course and multisystemic involvement are major arguments for a mitochondrial myopathy. In the absence of relevant criteria arguing for Myasthenia Gravis (significant variability of muscle weakness, positive titer of anti-AChR or anti-MuSK antibodies, decremental EMG response), a muscle biopsy is required before indication of thymectomy to exclude a mitochondrial disease.

A non-ischemic forearm exercise test for the screening of patients with exercise intolerance.

BACKGROUND: The forearm exercise test is a common investigation that allows detection of some metabolic myopathies. It is not completely standardized and, when performed in ischemic conditions, may induce rhabdomyolysis in patients with glycogenosis. OBJECTIVE: To develop a standardized non-ischemic exercise test for a safe screening of patients with exercise intolerance. METHODS: Twenty-six healthy subjects and 32 patients with exercise intolerance performed an isometric exercise at 70% of the maximal voluntary contraction during 30 seconds in non-ischemic conditions. Blood concentrations of creatine kinase, lactate, and ammonia were analyzed. RESULTS: A nearly fourfold lactate rise was induced by exercise in healthy subjects. All patients with normal muscle biopsy showed values similar to those of healthy subjects. No significant lactate increase was observed in six patients with a myophosphorylase defect and one with a debrancher defect. Disparate lactate responses were observed in 14 patients with a mitochondrial myopathy. The blood lactate level at rest was abnormally high in four of these patients. The lactate surface normalized by the mechanical energy production was above the normal range in eight patients. CONCLUSIONS: The authors propose a standardized non-ischemic grip test that overcomes the main drawbacks of the classic ischemic forearm exercise test. It provides a specific, efficient, and safe screening test for patients with exercise intolerance. Its sensitivity was very good for patients with a glycogenolysis defect but remains partial in patients with a mitochondrial disorder.