Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.
Background: Female carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, develop muscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinical features of DMD carriers during childhood are poorly known.Patients: We describe...
| Publicado en: | Pediatric Neurology Vol. 55; pp. 58 - 64 |
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| Autores principales: | , , , , , , , , , , |
| Formato: | Journal Article |
| Publicado: |
Elsevier B.V.
Feb2016
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=112827856&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 112827856 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 08878994 JNS jtl: Pediatric Neurology issn: 08878994 maglogo: N pubinfo: dt: Feb2016 vid: 55 pid: 467 pub: Elsevier B.V. place: New York, New York artinfo: ui: 112827856 112827856 NLM26718981 10.1016/j.pediatrneurol.2015.11.004 NLM26718981 112827856 ppf: 58 ppct: 6 formats: tig: atl: Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. aug: au: Papa, Riccardo Madia, Francesca Bartolomeo, Domenico Trucco, Federica Pedemonte, Marina Traverso, Monica Broda, Paolo Bruno, Claudio Zara, Federico Minetti, Carlo Fiorillo, Chiara affil: Paediatric Neurology and Neuromuscular Disorders Unit, Istituto G. Gaslini, Genoa, Italy sug: subj: Muscular Dystrophy, Duchenne Muscle Proteins Muscular Dystrophy, Duchenne Physiopathology Creatine Kinase Blood Muscular Dystrophy, Duchenne Pathology Muscular Dystrophy, Duchenne Blood Prospective Studies Child, Preschool Female Mutation Adolescence Electromyography Child Exercise of Self-Care Agency Scale Scales Child, Preschool: 2-5 years Adolescent: 13-18 years Child: 6-12 years Female ab: Background: Female carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, develop muscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinical features of DMD carriers during childhood are poorly known.Patients: We describe a cohort of pediatric DMD carriers, providing clinical, genetic, and histopathologic features, with a mean follow-up of 7 years.Results: Fifteen females with a DMD mutation (age range 5 to 18 years) were included. Seven patients (46%) presented with clinically evident symptoms and signs such as limb girdle weakness, abnormal gait, and exercise intolerance. The other eight patients (53%) were evaluated because of an incidental finding of elevated level of creatine kinase. Creatine kinase level was elevated in all, ranging from 392 to 13,000 U/L. Calf hypertrophy was observed in eight patients (53%). No patient developed respiratory or cardiac involvement. The most frequent complication was scoliosis (46%). Four patients (29%) also presented minor learning disabilities or behavioral problems. We performed electromyography in half of patients, showing myopathic pattern in four (53%). Muscle biopsy revealed a mosaic reduction of dystrophin in nine available cases. DMD gene mutations were mostly deletions (71%), resulting in loss of reading frame in five patients (36%). The three patients who experienced the most severe disease course were affected either by a nonsense or frameshift mutation.Conclusions: Our analysis suggests that DMD gene mutations may be suspected in a female child with persistently elevated levels of creatine kinase. Evidence of scoliosis, calf hypertrophy, or myopathic pattern at electromyography may also be helpful, and muscle biopsy is always indicative. DMD carriers should be followed for subtle orthopedic and psychiatric complications during childhood. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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