Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of duchenne muscular dystrophy with duplication of dystrophin gene

Journal of Clinical Neuromuscular Disease

Volumn 11, Issue 1, 2009, Pages 49-53

  Tunteeratum, Atchara ^a   Witoonpanich, Rawiphan ^a   Phudhichareonrat, Suchart ^b   Eu Ahsunthornwattana, Jakris ^a   Pingsuthiwong, Sarinee ^a   Srichan, Kanoknan ^a   Sura, Thanyachai ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b PRASAT NEUROLOGICAL INSTITUTE   (Thailand)

Author keywords

Cardiomyopathy; Duchenne muscular dystrophy; Manifesting female carrier; Rhabdomyolysis

Indexed keywords

CREATINE KINASE; DYSTROPHIN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; INSULIN;

ACUTE KIDNEY FAILURE; AGED; ARTICLE; CASE REPORT; CONGESTIVE HEART FAILURE; CREATINE KINASE BLOOD LEVEL; DIABETES MELLITUS; DIURESIS; DNA DETERMINATION; DNA EXTRACTION; DUCHENNE MUSCULAR DYSTROPHY; DYSLIPIDEMIA; DYSPNEA; FEMALE; GENE; HETEROZYGOTE; HISTOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RHABDOMYOLYSIS; TACHYCARDIA; TACHYPNEA;

ACUTE KIDNEY INJURY; AGED; CREATINE KINASE; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEART FAILURE; HETEROZYGOTE; HUMANS; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; RHABDOMYOLYSIS;

EID: 70349155054     PISSN: 15220443     EISSN: 15371611     Source Type: Journal    
DOI: 10.1097/CND.0b013e3181adcda7     Document Type: Article

References (16)

1. Shigihara-Yasuda K, Tonoki H, Goto Y, et al. Asymptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining:a case report. Eur J Pediatr. 1992;151:66-68.
2. Janssen B, Hartmann C, Scholz V, et al. MLPA analysis for the detection of deletions, duplications andcomplex rearrangements in the dystrophin gene:potential and pitfalls. Neurogenetics. 2005;6:29-35.
3. Lai K, Loa I, Chan D, et al. Detecting exon deletions and duplications of the DMD gene using multiplexligation-dependent probe amplification (MLPA). ClinBiochem. 2006;393:67-72.
4. Eagle M, Baudouin SV, Chandler C, et al. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of homenocturnal ventilation. Neuromuscul Disord. 2002;12:926-929.
5. Hoogerwaarda EM, van der Wouw PA, Wilde AA,et al. Cardiac involvement in carriers of Duchenneand Becker muscular dystrophy. Neuromuscul Disord.1999;9:347-351.
6. Watanabe K, Izumi T, Natsui M, et al. Dystrophinnegative skeletal and myocardial muscle cells ina carrier of Duchenne's muscular dystrophy. EurHeart J. 1993;14:989-992.
7. Mirabella M, Servidei S, Manfredi G, et al. Cardiomyopathymay be the only clinical manifestation infemale carriers of Duchenne muscular dystrophy.Neurology. 1993;43:2342-2345.
8. Schmidt GN, Burmeister MA, Lilje C, et al. Acute heart failure during spinal surgery in a boy with Duchenne muscular dystrophy. Br J Anaesth. 2003;90:800-804.
9. Chalkiadis GA, Branch KG. Cardiac arrest after isoflurane anaesthesia in a patient with Duchenne's muscular dystrophy. Anaesthesia. 1990;45:22-25.
10. Brownell AKW. Malignant hyperthermia: relationship to other diseases. Br J Anaesth. 1988;60:303-308.
11. Griggs RC, Mendell JR, Brooke MH, et al. Clinical investigation in Duchenne dystrophy. Part V. Use of creatine kinase and pyruvate kinase in carrier detection. Muscle Nerve. 1985;8:60-67.
12. Comi LI, Nigro G, Politano L, et al. The cardiomyopathy of Duchenne/Becker consultants. Int JCardiol. 1992;34:297-305.
13. Moser H, Emery AE. The manifesting carrier in Duchenne muscular dystrophy. Clin Genet. 1974;5:271-284.
14. Romero NB, Lonlay PD, Llense S, et al. Pseudometabolic presentation in a Duchenne musculardystrophy symptomatic carrier with "de novo" duplication of dystrophin gene. Neuromuscul Disord.2001;11:494-498.
15. Backman E, Henriksson KG. Low dose prednisolone treatment in Ducheen and Becker muscular dystrophy. Neuromuscul Disord. 1995;5:233-241.
16. Sansome A, Roystone P, Dubowitz V. Steroids inDuchenne muscular dystrophy: pilot study of a newlow-dosage schedule. Neuromuscul Disord. 1993;3:567-569.