Hereditary myopathies with early respiratory insufficiency in adults

Muscle and Nerve

Volumn 56, Issue 5, 2017, Pages 881-886

  Naddaf, Elie ^a   Milone, Margherita ^a  

^a MAYO CLINIC   (United States)

Author keywords

congenital myopathy; diaphragm weakness; early respiratory insufficiency; hereditary myopathy; neuromuscular respiratory failure

Indexed keywords

CREATINE KINASE; CONNECTIN; MUSCLE PROTEIN; SELENOPROTEIN; SEPN1 PROTEIN, HUMAN; TTN PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; CARDIOVASCULAR SYSTEM EXAMINATION; CENTRONUCLEAR MYOPATHY; CLASSIFICATION ALGORITHM; CLINICAL ARTICLE; CLINICAL FEATURE; CONTRACTURE; CYTOPLASMIC BODY MYOPATHY; ELECTRODIAGNOSIS; ELECTROMYOGRAM; GENETIC DISORDER; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LABORATORY TEST; LAMINOPATHY; LONGITUDINAL STUDY; MEDICAL HISTORY; MELAS SYNDROME; MIDDLE AGED; MULTIMINICORE DISEASE; MUSCLE WEAKNESS; MYOFIBRILLAR MYOPATHY; MYOPATHY; MYOTONIA; MYOTONIC DYSTROPHY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; RESPIRATORY FUNCTION; SPINE DISEASE; YOUNG ADULT; COHORT ANALYSIS; ELECTROMYOGRAPHY; FEMALE; GENETIC DISEASES, INBORN; GENETICS; HEART RATE; LUNG FUNCTION TEST; MALE; METABOLISM; MUSCULAR DISEASES; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY; RESPIRATORY INSUFFICIENCY; TACHYCARDIA, SINUS;

ADULT; AGED; COHORT STUDIES; CONNECTIN; CREATINE KINASE; ELECTROMYOGRAPHY; FEMALE; GENETIC DISEASES, INBORN; HEART RATE; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DISEASES; MUTATION; RESPIRATORY FUNCTION TESTS; RESPIRATORY INSUFFICIENCY; SELENOPROTEINS; TACHYCARDIA, SINUS;

EID: 85017619267     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.25602     Document Type: Article

References (35)

1. Whitaker J, Love S, Williams AP, Plummeridge M. Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure. Muscle Nerve 2009;39:406–408.
2. Jaeger B, de Visser M, Aronica E, van der Kooi AJ. Respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies. Neuromuscul Disord 2015;25:457–460.
3. Kassardjian CD, Lennon VA, Alfugham NB, Mahler M, Milone M. Clinical features and treatment outcomes of necrotizing autoimmune myopathy. JAMA Neurol 2015;72:996–1003.
4. Ghosh PS, Milone M. Clinical and laboratory findings of 21 patients with radiation-induced myopathy. J Neurol Neurosurg Psychiatry 2015;86:152–158.
5. Smith BK, Renno MS, Green MM, Sexton TM, Lawson LA, Martin AD, et al. Respiratory motor function in individuals with centronuclear myopathies. Muscle Nerve 2016;53:214–221.
6. Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, et al. Minicore myopathy in children: a clinical and histopathological study of 19 cases. Neuromuscul Disord 2000;10:264–273.
7. Herzog A, Hartung R, Reuser AJJ, Hermanns P, Runz H, Karabul N, et al. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis 2012;7:35.
8. Montagnese F, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, et al. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. J Neurol 2015;262:968–978.
9. Stepien KM, Hendriksz CJ, Roberts M, Sharma R. Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years. Mol Genet Metab 2016;117:413–418.
10. Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel J-Y, et al. The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease. Rev Neurol (Paris) 2013;169:595–602.
11. Kassardjian CD, Engel AG, Sorenson EJ. Electromyographic findings in 37 patients with adult-onset acid maltase deficiency. Muscle Nerve 2015;51:759–761.
12. Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol 2013;260:951–959.
13. Schneider I, Hanisch F, Müller T, Schmidt B, Zierz S. Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months. Wien Med Wochenschr 2013;163:40–44.
14. Vianello A, Semplicini C, Paladini L, Concas A, Ravaglia S, Servidei S, et al. Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. Lung 2013;191:537–544.
15. Edström L, Thornell LE, Albo J, Landin S, Samuelsson M. Myopathy with respiratory failure and typical myofibrillar lesions. J Neurol Sci 1990;96:211–228.
16. Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, et al. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain 2007;130:1485–1496.
17. Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 2008;82:88–99.
18. Avram C, Angus R, Ford V, Ward K, Parker R. XMPMA: acute on chronic ventilatory failure managed successfully with non-invasive ventilation. JRSM Short Rep 2011;2:84.
19. Olivé M, Odgerel Z, Martínez A, Poza JJ, Bragado FG, Zabalza RJ, et al. Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. Neuromuscul Disord 2011;21:533–542.
20. Kley RA, Hellenbroich Y, van der Ven PFM, Fürst DO, Huebner A, Bruchertseifer V, et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 2007;130:3250–3264.
21. Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012;135:1695–1713.
22. Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain 2012;135:1682–1694.
23. Chapon F, Viader F, Fardeau M, Tomé F, Daluzeau N, Berthelin C, et al. [Familial myopathy with “cytoplasmic body” (or “spheroid”) type inclusions, disclosed by respiratory insufficiency]. Rev Neurol (Paris) 1989;145:460–465.
24. Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry 2014;85:331–338.
25. Jungbluth H. Multi-minicore disease. Orphanet J Rare Dis 2007;2:31.
26. Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, et al. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nat Genet 2011;43:1189–1192.
27. Liewluck T, Milone M, Tian X, Engel AG, Staff NP, Wong L-J. 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.
28. Mathieu J, Allard P, Potvin L, Prévost C, Bégin P. A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999;52:1658–1662.
29. Sansone VA, Gagnon C. 207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: management and implications for research, 27–29 June 2014, Naarden, The Netherlands. Neuromuscul Disord 2015;25:432–442.
30. Groh WJ, Groh MR, Saha C, Kincaid JC, Simmons Z, Ciafaloni E, et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med 2008;358:2688–2697.
31. Cros D, Palliyath S, DiMauro S, Ramirez C, Shamsnia M, Wizer B. Respiratory failure revealing mitochondrial myopathy in adults. Chest 1992;101:824–828.
32. Amornvit J, Pasutharnchat N, Pachinburavan M, Jongpiputvanich S, Joyjinda Y. Fulminant respiratory muscle paralysis, an expanding clinical spectrum of mitochondrial A3243G tRNALeu mutation. J Med Assoc Thai 2014;97:467–472.
33. Yang CC, Hwang CC, Pang CY, Wei YH. Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNA(Leu(UUR))gene. J Formos Med Assoc 1998;97:715–719.
34. Catteruccia M, Fattori F, Codemo V, Ruggiero L, Maggi L, Tasca G, et al. Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord 2013;23:229–238.
35. Fischer D, Herasse M, Bitoun M, Barragán-Campos HM, Chiras J, Laforêt P, et al. Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain 2006;129:1463–1469.