Myopathy with respiratory failure: causes

Evidence-based neurology checklist on myopathy with respiratory failure: causes: Metabolic myopathies Acid maltase deficiency (Pompe disease) Carnitine deficiency Congenital myopathies EMARDD: features SMARD1 Other muscle diseases Acronym

Metabolic myopathies

  • Acid maltase deficiency (Pompe disease)
  • Carnitine deficiency

Congenital myopathies

EMARDD: features

SMARD1

Other muscle diseases

Acronym

References

  1. Rolak LA. Neurology Secrets. Third edition. Hanley and Belfus Philadelphia 2001 p68.
  2. Naddaf E, Milone M. Hereditary myopathies with early respiratory insufficiency in adults. Muscle Nerve 2017; 56:881-886.
  3. Pfeffer G, Povitz M, Gibson GJ, Chinnery PF. Diagnosis of muscle diseases presenting with early respiratory failure. J Neurol 2015; 262:1101-1114. 
  4. 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.
  5. Rimmer KP, Whitelaw WA. The respiratory muscles in multicore myopathy. Am Rev Respir Dis 1993; 148:227-231.
  6. And 5 more. Subscribe to see the full list

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