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Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy.
Genet Couns. 2009; 20(3):275-9.GC

Abstract

The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperekplexia is characterized by transient, generalized rigidity in response to unexpected loud noises or sudden tactile stimulation. Herein, we report an infant who had typical clinical features of FCMD with hyperekplexia. Our purpose is to draw attention to this first report of concomitant FCMD and hyperekplexia.

Authors+Show Affiliations

Gulhane Military School of Medicine, Department of Pediatrics, Division of Neonatology, Ankara, Turkey. drturantunc@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19852435

Citation

Tunc, T, et al. "Hyperekplexia in a Neonate: a Novel Finding in Fukuyama Type Congenital Muscular Dystrophy." Genetic Counseling (Geneva, Switzerland), vol. 20, no. 3, 2009, pp. 275-9.
Tunc T, Mungan IA, Okulu E, et al. Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy. Genet Couns. 2009;20(3):275-9.
Tunc, T., Mungan, I. A., Okulu, E., Tiras, S. T., Tekin, M., Atasay, B., Arsan, S., & Turmen, T. (2009). Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy. Genetic Counseling (Geneva, Switzerland), 20(3), 275-9.
Tunc T, et al. Hyperekplexia in a Neonate: a Novel Finding in Fukuyama Type Congenital Muscular Dystrophy. Genet Couns. 2009;20(3):275-9. PubMed PMID: 19852435.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy. AU - Tunc,T, AU - Mungan,I A, AU - Okulu,E, AU - Tiras,S T, AU - Tekin,M, AU - Atasay,B, AU - Arsan,S, AU - Turmen,T, PY - 2009/10/27/entrez PY - 2009/10/27/pubmed PY - 2009/11/17/medline SP - 275 EP - 9 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 20 IS - 3 N2 - The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperekplexia is characterized by transient, generalized rigidity in response to unexpected loud noises or sudden tactile stimulation. Herein, we report an infant who had typical clinical features of FCMD with hyperekplexia. Our purpose is to draw attention to this first report of concomitant FCMD and hyperekplexia. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/19852435/Hyperekplexia_in_a_neonate:_a_novel_finding_in_Fukuyama_type_congenital_muscular_dystrophy_ L2 - http://www.diseaseinfosearch.org/result/2962 DB - PRIME DP - Unbound Medicine ER -