Adult-onset nemaline myopathy presenting as respiratory failure

Respiratory Care

Volumn 53, Issue 11, 2008, Pages 1490-1494

  Kelly, Emer ^a   Farrell, Michael A ^a   McElvaney, Noel G ^a  

^a BEAUMONT HOSPITAL   (Ireland)

Author keywords

Nemaline myopathy; Respiratory failure

Indexed keywords

ADULT; AIRWAY PRESSURE; ARTERIAL GAS; ARTICLE; ARTIFICIAL VENTILATION; BLOOD CELL COUNT; CASE REPORT; CHEMOSIS; COUGHING; CYANOSIS; DYSPNEA; ELECTROMYOGRAM; ELECTRON MICROSCOPY; FALLING; FOLLOW UP; FORCED EXPIRATORY VOLUME; HEADACHE; HUMAN; HYPERCAPNIA; HYPOXIA; LIMB WEAKNESS; LUNG FUNCTION; LUNG FUNCTION TEST; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; NEMALINE MYOPATHY; NEUROLOGIC EXAMINATION; OPHTHALMOSCOPY; OXYGEN SATURATION; PHYSICAL EXAMINATION; PHYSIOTHERAPY; POLYCYTHEMIA; RESPIRATORY FAILURE; SOMNOLENCE; BIOPSY; DIFFERENTIAL DIAGNOSIS; ELECTROMYOGRAPHY; FORCED EXPIRATORY FLOW; METHODOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY;

ADULT; BIOPSY; DIAGNOSIS, DIFFERENTIAL; ELECTROMYOGRAPHY; FOLLOW-UP STUDIES; FORCED EXPIRATORY FLOW RATES; HUMANS; MALE; MYOPATHIES, NEMALINE; RESPIRATION, ARTIFICIAL; RESPIRATORY INSUFFICIENCY;

EID: 58849133018     PISSN: 00201324     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001;50(3):312-320. (Pubitemid 32848733)
2. Wallgren-Pettersson C, Sainio K, Salmi T. Electromyography in congenital nemaline myopathy. Muscle Nerve 1989;12(7):587-593. (Pubitemid 19182120)
3. Engel AG. Late onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases. Mayo Clin Proc 1966;41(11):713-741.
4. Pelin K, Donner K, Holmberg M, Jungbluth H, Muntoni F, Wallgren-Pettersson C. Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromuscul Disord 2002;12(7-8):680-686.
5. Pelin K, Hilpelä P, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA 1999;96(5):2305-2310. (Pubitemid 29117910)
6. Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, et al. A mutation in the alpha-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 1995;10(2):249.
7. Tan P, Briner J, Boltshauser E, Davis MR, Wilton SD, North K, et al. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromuscul Disord 1999;9(8):573-579. (Pubitemid 29525541)
8. Donner K, Ollikainen M, Ridanpää M, Christen HJ, Goebel HH, de Visser M, et al. Mutations in the β-tropomyosin (TPM2) gene: a rare cause of nemaline myopathy. Neuromuscul Disord 2002;12(2):151-158. (Pubitemid 33152733)
9. Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, et al. Mutations in the skeletal muscle alpha actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23(2):208-212. (Pubitemid 29455395)
10. Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, et al. Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene. Am J Hum Genet 2001;68(6):1333-1343. (Pubitemid 32510609)
11. Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 2000;67(4):814-821.
12. Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC International Workshop: nemaline myopathy. June 11th-13th, 1999, Naarden, The Netherlands. Neuromuscul Disord 2000;10(4-5):299-306.
13. Chahin N, Selcen D, Engel A. Sporadic late onset nemaline myopathy. Neurology 2005;65(8):1158-1164. (Pubitemid 41508203)
14. Falgà-Tirado C, Pérez-Pemán P, Ordi-Ros J, Bofill JM, Balcells E. Adult onset nemaline myopathy presenting as respiratory insufficiency. Respiration 1995;62(6):353-354.
15. Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, et al. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene. Neuromusc Disord 2001;11(2):35-40. (Pubitemid 32106880)
16. Kudou M, Kobayashi Y, Yamashita K, Kita H, Yasuba H, Hamada K. [Two cases of nemaline myopathy diagnosed after episodes of respiratory failure.] Nihon Kokyuki Gakkai Zasshi 2006;44(6):474-478. Article in Japanese.
17. Simonds AK. Recent advances in respiratory care for neuromuscular disease. Chest 2006;130(6):1879-1886. (Pubitemid 46033449)
18. Rideau Y, Janoski LW, Grellet G. Respiratory function in the muscular dystrophies. Muscle Nerve 1981;4(2):155-164. (Pubitemid 11134197)
19. Bach JR, Alba A, Mosher, Delaubier A. Intermittent positive pressure ventilation via nasal access in the management of respiratory insufficiency. Chest 1987;94(1):168-170. (Pubitemid 17101359)
20. Leger P, Bedicam JM, Cornette A, Reybet-Degat O, Langevin B, Polu JM, et al. Nasal intermittent positive pressure ventilation:long tem follow-up in patients with severe chronic respiratory insufficiency. Chest 1994;105(1):100-105. (Pubitemid 24029085)
21. Simonds AK, Elliott MW. Outcome of domiciliary nasal intermittent positive pressure ventilation in restrictive and obstructive disorders. Thorax 1995;50(6):604-609.
22. Baydur A, Layne E, Aral H, Krishnareddy N, Topacio R, Frederick G, Bodden W. Long term noninvasive ventilation in the community for patients with musculoskeletal disorders: a 46 year experience and review. Thorax 2000;55(1):4-11. (Pubitemid 30248772)
23. Hill NS. Noninvasive ventilation: does it work, for whom, and how? Am Rev Respir Dis 1993;147(4):1050-1055.
24. Annane D, Quera-Salva MA, Lofaso F, Vercken JB, Lesieur O, Fromageot C, et al. Mechanisms underlying the effects of nocturnal ventilation on daytime blood gases in neuromuscular diseases. Eur Respir J 1999;13(1):157-162. (Pubitemid 29079237)
25. Nickol AN, Hart N, Hopkinson NS, Moxham J, Simonds A, Polkey MI. Mechanisms of improvement of respiratoyr failure in patients with restrictive thoracic disease treated with noninvasive ventilation. Thorax 2005;60(9):754-760. (Pubitemid 41297895)
26. Annane D, Orlikowski D, Chevret S, Chevrolet JC, Raphaël JC. Nocturnal mechanical ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders. Cochrane Database Syst Rev 2007;(4):CD001941. (Pubitemid 351805305)