Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function

Audiology and Neurotology

Volumn 13, Issue 1, 2007, Pages 1-6

  Trevisan, Carlo P ^a   Pastorello, Ebe ^a   Ermani, Mario ^a   Angelini, Corrado ^a   Tomelleri, Giuliano ^b   Tonin, Paola ^b   Mongini, Tiziana ^c   Palmucci, Laura ^c   Galluzzi, Giuliana ^d   Tupler, Rossella G ^e   Marioni, Gino ^a   Rimini, Alessandro ^f  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^f S ANTONIO HOSPITAL   (Italy)

Author keywords

Audiometry; Facioscapulohumeral muscular dystrophy; Hearing loss; Review

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUDITORY THRESHOLD; CONTROLLED STUDY; DISEASE ASSOCIATION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; HEARING; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCLE WEAKNESS; ONSET AGE; OTOSCOPY; PERCEPTION DEAFNESS; PREVALENCE; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; QUESTIONNAIRE; RISK FACTOR; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AUDIOMETRY, PURE-TONE; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PREVALENCE; RISK FACTORS;

EID: 37249009052     PISSN: 14203030     EISSN: 14219700     Source Type: Journal    
DOI: 10.1159/000107431     Document Type: Article

References (25)

1. Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR: Early onset facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;2:S67-S72.
2. Brouwer OF, Padberg GW, Ruys CJM, Brand R, de Laat JAP, Grore JJ: Hearing loss in facioscapulohumeral muscular dystrophy. Neurology 1991;41:1878-1881.
3. Del Bo M, Giaccai F, Grisanti G: Manuale di audiologia. Milano, Masson, 1995.
4. Emery AEH: Population frequencies of inherited neuromuscular diseases - A world survey. Neuromuscul Disord 1991;1:19-29.
5. Fitzsimons RB: Facioscapulohumeral muscular dystrophy (review). Curr Opin Neurol 1999;12:501-511.
6. Funakoshi M, Goto K, Arahata K: Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 1998;50:1791-1794.
7. Galluzzi G, Deidda G, Cacurri S, Colantoni L, Piazzo N, Vigneti E, et al: Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease. Neuromuscul Disord 1999;9:190-198.
8. Gieron MA, Korthals JK, Kousseff BG: Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels. Arch Neurol 1985;2:143-144.
9. Hobson-Webb LD, Caress JB: Facioscapulohumeral muscular dystrophy can be a cause of isolated childhood cognitive dysfunction. J Child Neurol 2006;21:252-253.
10. Jardine PE, Koch MC, Lunt PW, Maynard J, Bathke KD, Harper PS, et al: De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). Arch Dis Child 1994;71:221-227.
11. Korf BR, Bresnan MJ, Shapiro F, Sotrel A, Abroms IF: Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness. Ann Neurol 1985;17:513-516.
12. Meyerson MD, Lewis E, Ill K: Facioscapulohumeral muscular dystrophy and accompanying hearing loss. Arch Otolaryngol 1984;110:261-266.
13. Padberg GW, Brouwer OF, de Keizer RJW, Dijkman G, Wijmenga C, Grote JJ, et al: On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;(suppl 2):S73-S80.
14. Padberg GW, Lunt PW, Koch M, Fardeau M: Facioscapulohumeral muscular dystrophy; in Emery AEH (ed): Diagnostic Criteria for Neuromuscular Disorders. Baarn, ENMC, 1997, pp 9-15.
15. Pastorello E, Mostacciuolo ML, Vazza G, Armani M, Angelini C, Tomelleri G, et al: Epidemiology of facioscapulohumeral muscular dystrophy in North-East Italy. Neurol Sci 2006;27(suppl):S150.
16. Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, et al: Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol 1999;45:751-757.
17. Rogers MT, Zhao F, Harper PS, Stephens D: Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2002;12:358-365.
18. Small RG: Coats' disease and muscular dystrophy. Trans Am Acad Ophthalmol Otolaryngol 1968;72:225-231.
19. Taylor DA, Carrol JE, Smith ME, Johnson MO, Johnson GP, Brooke MH: Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome. Ann Neurol 1982;12:395-398.
20. Tawil R, Van der Maarel SM: Facioscapulohumeral muscular dystrophy. Muscle Nerve 2006;34:1-15.
21. Trevisan CP, Pastorello E, Armani M, Angelini C, Tomelleri G, Tonin P, et al: Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. Eur Neurol 2006;56:1-5.
22. Tupler R, Gabellini D: Molecular basis of facioscapulohumeral muscular dystrophy. Cell Mol Life Sci 2004;61:557-566.
23. Van Deutekom JC, Wijmenga C, Van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, et al: FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993;12:2037-2042.
24. Voit T, Lamprecht A, Lenard HG, Goebel HH: Hearing loss in facioscapulohumeral dystrophy. Eur J Pediatr 1986;145:280-285.
25. Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LH, Wright TJ, Dauwerse HG: Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992;2:26-30.