A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene.
BMC Neurol
; 16(1): 255, 2016 Dec 12.
Article
en En
| MEDLINE
| ID: mdl-27955624
ABSTRACT
BACKGROUND:
Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene located at Xp21.2. Epilepsy is an infrequent manifestation of BMD, while cases of BMD with dysgnosia are extremely rare. CASE PRESENTATION We describe a 9-year-old boy with BMD, who presented with epilepsy and dysgnosia. Serum creatine kinase level was markedly elevated (3665 U/L). Wechsler intelligence tests showed a low intelligence quotient (IQ = 65). Electromyogram showed slight myogenic changes and skeletal muscle biopsy revealed muscular dystrophy. Immunohistochemical staining showed partial positivity of sarcolemma for dystrophin-N. Multiplex ligation-dependent probe amplification revealed a duplication mutation in exons 37-44 in the Dystrophin gene.CONCLUSIONS:
The present case report helps to better understand the clinical and genetic features of BMD.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Distrofina
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Distrofia Muscular de Duchenne
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Epilepsia
Límite:
Child
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Humans
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Male
Idioma:
En
Revista:
BMC Neurol
Asunto de la revista:
NEUROLOGIA
Año:
2016
Tipo del documento:
Article