Duchenne Muscular Dystrophy in a Female Child with Turner syndrome: A Case report
Keywords:
Duchenne Muscular Dystrophy, Dystrophin, Turner’s syndrome
Abstract
Duchenne Muscular Dystrophy (DMD) is a severe, progressive, X linked muscular wasting disorder that ordinarily has full clinical expression only in males. Females are affected in rare instances. We report a case of Duchenne Muscular Dystrophy in a female child with Turner’s syndrome.
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References
1. Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 2005; 117: 92-8.
2. Emery AE. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord 1991; 1: 19-29. [PubMed]
3. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003 Dec; 2(12):731–740. [PubMed]
4. Yoshioka M, Yorifuji T, Mituyoshi I. Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy. Clin Genet 1998 Feb; 53(2):102–107. [PubMed]
5. Hoffman EP and Kunkel IM. Dystrophin abnormalities in Duchenne and Becker muscular dystrophy. Neuron 1989; 2: 1019-29. [PubMed]
6. Bushby KM, Goodship JA, Nicholson LV, Johnson MA, Haggerty ID, Gardner Medwin D. Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1993 Jan; 3(1):57–64.
7. Boyd Y, Buckle V, Holt S, Munro E, Hunter D, Craig I. Muscular dystrophy in girls with X;autosome translocations. J Med Genet 1986 Dec; 23(6):484–490. [PubMed]
8. Soltanzadeh P, Friez MJ, Dunn D, Von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bonnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord 2010 Aug; 20(8):499–504. [PubMed]
9. Satre V, Monnier N, Devillard F, Amblard F, Lunardi J. Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome. Prenat Diagn 2004 Nov; 24(11):913–917. [PubMed]
10. Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 1997 Jan; 60(1):160–165. [PubMed]
11. Katayama Y, Tran VK, Hoan NT, Zhang Z, Goji K, Yagi M, Takeshima Y, Saiki K, Nhan NT, Matsuo M. Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. Hum Genet 2006 Jun; 119(5):516–519. [PubMed]
12. Azofeifa J, Voit T, Hubner C, Cremer M. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995 Aug; 96(2):167–176.
13. Taylor PJ, Betts GA, Maroulis S, Gilissen C, Pedersen RL, Mowat DR, Johnston HM, Buckley MF. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One 2010 Jan 20; 5(1):8803. [PubMed]
14. Yan J, Feng J, Buzin CH. Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat Feb 2004; 23(2):203-4. [PubMed]
15. Panigrahi I, Mittal B. Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. Indian Pediatr 2001; 38: 631-9. [PubMed]
16. Corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology Jan 11 2005; 64(1):13-20.
17. Duboc D, Meune C, Pierre B, Wahbi K, Eymard B, Toutain A. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J Sep 2007; 154(3):596-602. [PubMed]
18. Bowles DE, McPhee SW, Li C. Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector. Mol Ther Feb 2012; 20(2):443-55. [PubMed]
19. Clemens PR, Fenwick RG, Chamberlain JS. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families using dinucleotide repeat polymorphisms. Am J Hum Genet Nov 1991; 49(5):951-60.
2. Emery AE. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord 1991; 1: 19-29. [PubMed]
3. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003 Dec; 2(12):731–740. [PubMed]
4. Yoshioka M, Yorifuji T, Mituyoshi I. Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy. Clin Genet 1998 Feb; 53(2):102–107. [PubMed]
5. Hoffman EP and Kunkel IM. Dystrophin abnormalities in Duchenne and Becker muscular dystrophy. Neuron 1989; 2: 1019-29. [PubMed]
6. Bushby KM, Goodship JA, Nicholson LV, Johnson MA, Haggerty ID, Gardner Medwin D. Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1993 Jan; 3(1):57–64.
7. Boyd Y, Buckle V, Holt S, Munro E, Hunter D, Craig I. Muscular dystrophy in girls with X;autosome translocations. J Med Genet 1986 Dec; 23(6):484–490. [PubMed]
8. Soltanzadeh P, Friez MJ, Dunn D, Von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bonnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord 2010 Aug; 20(8):499–504. [PubMed]
9. Satre V, Monnier N, Devillard F, Amblard F, Lunardi J. Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome. Prenat Diagn 2004 Nov; 24(11):913–917. [PubMed]
10. Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 1997 Jan; 60(1):160–165. [PubMed]
11. Katayama Y, Tran VK, Hoan NT, Zhang Z, Goji K, Yagi M, Takeshima Y, Saiki K, Nhan NT, Matsuo M. Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. Hum Genet 2006 Jun; 119(5):516–519. [PubMed]
12. Azofeifa J, Voit T, Hubner C, Cremer M. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995 Aug; 96(2):167–176.
13. Taylor PJ, Betts GA, Maroulis S, Gilissen C, Pedersen RL, Mowat DR, Johnston HM, Buckley MF. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One 2010 Jan 20; 5(1):8803. [PubMed]
14. Yan J, Feng J, Buzin CH. Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat Feb 2004; 23(2):203-4. [PubMed]
15. Panigrahi I, Mittal B. Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. Indian Pediatr 2001; 38: 631-9. [PubMed]
16. Corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology Jan 11 2005; 64(1):13-20.
17. Duboc D, Meune C, Pierre B, Wahbi K, Eymard B, Toutain A. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J Sep 2007; 154(3):596-602. [PubMed]
18. Bowles DE, McPhee SW, Li C. Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector. Mol Ther Feb 2012; 20(2):443-55. [PubMed]
19. Clemens PR, Fenwick RG, Chamberlain JS. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families using dinucleotide repeat polymorphisms. Am J Hum Genet Nov 1991; 49(5):951-60.
CITATION
DOI: 10.17511/ijmrr.2014.i03.17
Published: 2014-06-30
How to Cite
1.
Nahrel R, Kosam A. Duchenne Muscular Dystrophy in a Female Child with Turner syndrome: A Case report. Int J Med Res Rev [Internet]. 2014Jun.30 [cited 2024Jul.3];2(3):262-6. Available from: https://ijmrr.medresearch.in/index.php/ijmrr/article/view/100
Section
Case Report
OAI - Open Archives Initiative
