Measuring quality of life impairment in skeletal muscle channelopathies

European Journal of Neurology

Volumn 19, Issue 11, 2012, Pages 1470-1476

  Sansone, V A ^a   Ricci, C ^b   Montanari, M ^c   Apolone, G ^c   Rose, M ^d   Meola, G ^a   Panzeri, M ^a   Angelini, C ^e   Palmieri, A ^e   Siciliano, G ^e   Volpi, L ^e   Falorni, M ^e   Mongini, T ^e   Vercelli, L ^e   Politano, L ^f   Tozza, S ^f   Solimene, C ^f   Massa, R ^g   Panico, M B ^g   Pisani, V ^g   Grandi, M ^h   Toscano, A ⁱ   Musumeci, O ⁱ   Rodolico, C ⁱ   more..

^a UNIVERSITY OF MILAN   (Italy)

^b IRCCS POLICLINICO SAN DONATO   (Italy)

^c MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF PADOVA   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g UNIVERSITY OF ROME TOR VERGATA   (Italy)

^h Respiratory Physiopathology   (Italy)

ⁱ UNIVERSITY OF MESSINA   (Italy)

Author keywords

INQoL; Myotonic dystrophy; Non dystrophic myotonias; Quality of life; SF 36; Skeletal muscle channelopathies

Indexed keywords

ACETAZOLAMIDE; DICLOFENAMIDE; MEXILETINE;

ADULT; ANDERSEN SYNDROME; ARTICLE; CONTROLLED STUDY; DAILY LIFE ACTIVITY; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; HUMAN; INDIVIDUALIZED QUALITY OF LIFE; MAJOR CLINICAL STUDY; MALE; MUSCLE CHANNELOPATHY; MUSCLE FATIGUE; MUSCLE WEAKNESS; MYALGIA; MYOTONIA; PERCEPTION; PERIODIC PARALYSIS; PRIORITY JOURNAL; QUALITY OF LIFE; QUALITY OF LIFE INDEX; SHORT FORM 36; THOMSEN DISEASE;

ADULT; CHANNELOPATHIES; FEMALE; HUMANS; MALE; MIDDLE AGED; QUALITY OF LIFE; QUESTIONNAIRES;

EID: 84867717323     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2012.03751.x     Document Type: Article

References (19)

1. Venance SL, Cannon SC, Fialho D, et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006; 129: 8-17.
2. Burge JA, Hanna MG. Novel insights into the pathomechanisms of skeletal muscle channelopathies. Curr Neurol Neurosci Rep 2012; 12: 62-69.
3. Jurkat-Rott K, Lehmann-Horn F. State of the art in hereditary muscle channelopathies. Acta Myol 2010; 29: 343-350.
4. Trip J, de Vries J, Drost G, Ginjaar HB, van Engelen BGM, Faber CG. Health status in non-dystrophic myotonias: close relation with pain and fatigue. J Neurol 2009; 256: 939-947.
5. Dalakas MC, Engel WK. Treatment of "permanent" muscle weakness in familial Hypokalemic Periodic Paralysis. Muscle Nerve 1983; 6: 182-186.
6. Tawil R, McDermott MP, Brown R Jr, et al. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol 2000; 47: 46-53.
7. Logigian EL, Martens WB, Moxley RT IV, et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology 2010; 74: 1441-1448.
8. Vincent KA, Carr AJ, Walburn J, Scott DL, Rose MR. Construction and validation of a quality of life questionnaire for neuromuscular disease (INQoL). Neurology 2007; 68: 1051-1057.
9. Sansone VA, Panzeri M, Montanari M, et al. Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases. Eur J Neurol 2010; 17: 1178-1187.
10. Bradley WG, Taylor R, Rice DR, et al. Progressive myopathy in hyperkalemic periodic paralysis. Arch Neurol 1990; 47: 1013-1017.
11. Brancati F, Valente EM, Davies NP, et al. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J Neurol Neurosurg Psychiatry 2003; 74: 1339-1341.
12. Winczewska-Wiktor A, Steinborn B, Lehman-Horn F, et al. K. Myopathy as the first symptom of hypokalemic periodic paralysis-case report of a girl from a Polish family with CACNA1S (R1239G) mutation. Adv Med Sci 2007; 52: 155-157.
13. Odor DL, Patel AN, Pearce LA. Familial hypokalemic periodic paralysis with permanent myopathy. A clinical and ultrastructural study. J Neuropathol Exp Neurol 1967; 26: 98-114.
14. Buruma OJ, Bots GT. Myopathy in familial hypokalaemic periodic paralysis independent of paralytic attacks. Acta Neurol Scand 1978; 57: 171-179.
15. Sansone V, Tawil R. Management and treatment of Andersen-Tawil syndrome (ATS). Neurotherapeutics 2007; 4: 233-237.
16. Tieleman AA, Jenks KM, Kalkman JS, Borm G, Van Engelen BG. High disease impact of myotonic dystrophy type 2 on physical and mental functioning. J Neurol 2011; 258: 1820-1826.
17. Yoon G, Quitania L, Kramer JH, Fu YH, Miller BL, Ptacek LJ. Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology 2006; 66: 1703-1710.
18. Meola G, Sansone V, Perani D, et al. Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscul Disord 2003; 13: 813-821.
19. Meola G, Sansone V. Cerebral involvement in myotonic dystrophies. Muscle Nerve 2007; 36: 294-306.