Myopathy with respiratory failure: causes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Myopathy with respiratory failure: causes. Acid maltase deficiency (Pompe disease), Carnitine deficiency. Fully referenced neurology checklist.
Metabolic myopathies
- Acid maltase deficiency (Pompe disease)
- Carnitine deficiency
Congenital myopathies
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Early onset myopathy, areflexia, respiratory distress, dysphagia (EMARDD)
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Spinal muscular atrophy with respiratory distress type 1 (SMARD1)
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Other muscle diseases
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Acronym
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References
- Rolak LA. Neurology Secrets. Third edition. Hanley and Belfus Philadelphia 2001 p68.
- Naddaf E, Milone M. Hereditary myopathies with early respiratory insufficiency in adults. Muscle Nerve 2017; 56:881-886.
- Pfeffer G, Povitz M, Gibson GJ, Chinnery PF. Diagnosis of muscle diseases presenting with early respiratory failure. J Neurol 2015; 262:1101-1114.
- Liewluck T, Milone M, Tian X, Engel AG, Staff NP, Wong LJ. Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations. Muscle Nerve 2016; 53:984-988.
- Rimmer KP, Whitelaw WA. The respiratory muscles in multicore myopathy. Am Rev Respir Dis 1993; 148:227-231.
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