Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases

Journal of Neurology

Volumn 262, Issue 2, 2015, Pages 285-293

  Bouchard, Jean Pierre ^a   Cossette, Louise ^b   Bassez, Guillaume ^c,d   Puymirat, Jack ^b  

^a LAVAL UNIVERSITY   (Canada)

^b University Laval   (Canada)

^c HENRI MONDOR HOSPITAL   (France)

^d UNIVERSITÉ PARIS EST CRÉTEIL   (France)

Author keywords

Muscle weakness; Muscular dystrophy; Myotonic dystrophy; Natural history; Physical disability

Indexed keywords

ADULT; AGE; AGED; ARTICLE; ASYMPTOMATIC DISEASE; CLINICAL EVALUATION; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE DURATION; DISEASE TRANSMISSION; FEMALE; FLEXOR MUSCLE; GRIP STRENGTH; HISTORY; HUMAN; LIMB WEAKNESS; MAJOR CLINICAL STUDY; MALE; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUSCULOSKELETAL SYSTEM PARAMETERS; MYOTONIC DYSTROPHY; NEUROLOGIC EXAMINATION; ONSET AGE; PHYSICAL DISABILITY; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCORING SYSTEM; TRINUCLEOTIDE REPEAT; WALKING DIFFICULTY; WHEELCHAIR; CROSS-SECTIONAL STUDY; MIDDLE AGED; PATHOPHYSIOLOGY; PHYSIOLOGY; SKELETAL MUSCLE; YOUNG ADULT;

ADULT; AGED; COHORT STUDIES; CROSS-SECTIONAL STUDIES; DISEASE PROGRESSION; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE STRENGTH; MUSCLE, SKELETAL; MYOTONIC DYSTROPHY; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84925519708     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7570-x     Document Type: Article

References (41)

1. Andersen G, Ørngreen MC, Preisler N et al (2013) Muscle phenotype in patients with myotonic dystrophy type 1. Muscle Nerve 47:409–415
2. Antonini G, Giubilei F, Mammarella A et al (2000) Natural history of cardiac involvement in myotonic dystrophy: correlation with CTG repeats. Neurology 55:1207–1209
3. Arsenault ME, Prévost C, Lescault A, Laberge C, Puymirat J, Mathieu J (2006) Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology 25:1248–1250
4. Birouk N, Gouider R, Le Guern E et al (1997) Charcot-Marie-tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120:813–823
5. Brook JD, McCurrach ME, Harley HG et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799–808
6. Cudia P, Bernasconi P, Chiodelli R et al (2009) Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables. J Neurol Neurosurg Psychiatry 80:790–793
7. de Die-Smulders CE, Howeler CJ, Thijs C et al (1998) Age and causes of death in adult-onset myotonic dystrophy. Brain 121:1557–1563
8. Echenne B, Rideau A, Roubertie A, Sebire G, Rivier F, Lemieux B (1998) Myotonic dystrophy type I in childhood: long-term evolution in patients surviving the neonatal period. Eur J Paediatr Neurol 12:210–223
9. Facenda-Lorenzo M, Hernandez-Afonso J, Rodrıguez-Esteban M, de Leon-Hernandez JC, Grillo-Perez JJ (2013) Original cardiac manifestations in myotonic dystrophy type 1 patients followed using a standard protocol in a specialized unit. Rev Esp Cardiol 66:193–197
10. Finsterer J, Gharehbaghi-Schnell E, Stöllberger C, Fheodoroff K, Seiser A (2001) Relation of cardiac abnormalities and CTG-repeat size in myotonic dystrophy. Clin Genet 59:350–355
11. Florence JM, Pandya S, King WM et al (1984) Clinical trials in Duchenne dystrophy: standardization and reliability of evaluation procedures. Phys Ther 64:41–45
12. Foff EP, Mahadevan MS (2011) Therapeutics development in myotonic dystrophy type 1. Muscle Nerve 44:160–169
13. Fu YH, Pizzuti A, Fenwick RG Jr et al (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256–1258
14. Gharehbaghi-Schnell EB, Finsterer J, Korschineck I, Mamoli B, Binder BR (1998) Genotype-phenotype correlation in myotonic dystrophy. Clin Genet 53:20–26
15. Harper PS (2001) Myotonic dystrophy, 3rd edn. Saunders WB, London
16. Heatwhole C, Bode R, Johnson N et al (2012) Patients-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology 79:348–357
17. Hébert LJ, Remec JF, Saulnier J, Vial C, Puymirat J (2010) The use of muscle strength assessed with handheld dynamometers as a non-invasive biological marker in myotonic dystrophy type 1 patients: a multicenter study. BMC Musculoskelet Disord 11:72–80
18. Johnson ER, Abresch RT, Carter GT et al (1995) Profile of neuromuscular diseases: myotonic dystrophy. Am J Phys Rehabil 74(suppl 5):S104–S116
19. Kaminsky P, Poussel M, Pruna L, Deibener J, Chenuel B, Brembilla-Perrot B (2011) Organ dysfunction and muscular disability in myotonic dystrophy type 1. Medicine 90:262–268
20. Khoshbakht R, Soltanzadeh A, Zamani B et al (2014) Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy. J Clin Neurosci 21:1123–1126
21. Kierkegaard M, Harms-Ringdahl K, Widén Holmqvist L, Tollbäck A (2009) Perceived functioning and disability in adults with myotonic Dystrophy type 1: a survey according to the international classification of functioning, disability and health. J Rehabil Med 41:512–520
22. Kole R, Krainer AR, Altman S (2012) RNA therapeutics: beyond RNA interference and antisense oligonucleotides. Nat Rev Drug Discov 11:125–140
23. Kroksmark AK, Ekström AB, Björck E, Tulinius M (2005) Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence. Dev Med Child Neurol 47:478–485
24. Laberge L, Veillette S, Mathieu J, Auclair J, Perron M (2007) The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. Clin Genet 71:59–66
25. Magaña JJ, Cisneros B (2011) Perspectives on gene therapy in myotonic dystrophy type 1. J Neurosci Res 89:275–285
26. Mahadevan M, Tsilfidis C, Sabourin L et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253–1255
27. Marchini C, Lonigro R, Verriello L, Pellizzari L, Bergonzi P, Damante G (2000) Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy. Clin Genet 57:74–82
28. Mathieu J, DeBraekeleer M, Prevost C (1990) Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). Neurology 40:839–842
29. Mathieu J, Allard P, Potvin L, Prevost C, Begin P (1999) A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 52:1658–1662
30. Mathieu J, Boivin H, Meunier D, Gaudreault M, Begin P (2001) Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology 56:336–340
31. Mathieu J, Boivin H, Richards CL (2003) Quantitative motor assesment in myotonic dystrophy. Can J Neurol Sci 30:129–136
32. Mendell JR, Csimma C, McDonald CM et al (2007) Challenges in drug development for muscle disease: a stakeholders’ meeting. Muscle Nerve 35:8–16
33. Peric S, Rakocevic Stojanovic V, Basta I, Peric M, Milicev M, Pavlovic, Lavrnic D (2013) Influence of multisystemic affection on health-related quality of life in patients with myotonic dystrophy type 1. Clin Neurol Neurosurg 115:270–275
34. Personius KE, Pandya S, King WM, Tawil R, McDermott MP, the FSH DY group (1994) Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. Phys Ther 74:253–263
35. Reardon W, Newcombe R, Fenton I, Sibert J, Harper PS (1993) The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child 68:177–181
36. Shy ME, Blake J, Krajewski K et al (2005) Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64:1209–1221
37. Thompson R, Schoser B, Monckton DG, Blonsky K, Locmüller H (2009) Patients registries and trial readiness in myotonic dystrophy- Treat-NMD/Marigold International Workshop Report. Neuromuscul Disord 19:860–866
38. Wang W, Liu Q, Wang ZX, Zhang W, Yuan Y (2013) Correlation of muscular impairment rating scale with myopathological changes in myotonic dystrophy type 1. Zhonghua Zhonghua Yi Xue Za ZHI 93:508–511
39. Werle S, Goldhahn J, Drerup S, Simmen BR, Sprott H, Herren DB (2009) Age- and gender-specific normative data of grip and pinch strength in a healthy adult Swiss population. J Hand Surg 1:76–84
40. Wheeler TM, Thornton CA (2007) Myotonic dystrophy: RNA-mediated muscle disease. Curr Opin Neurol 20:572–576
41. Whittaker RG, Ferenczi E, Hilton-Jones D (2006) Myotonic dystrophy: practical issues relating to assessment of strength. J Neurol Neurosurg Psychiatry 77:1282–1283