Fukuyama Congenital Muscular Dystrophy

Congenital muscular dystrophy (CMD) is a heterogeneous group of neurological disorders presenting at birth with weakness and hypotonia. Although the diagnosis is finally made through patterns of inheritance and muscle biopsy, the final imaging can be very characteristic in some of the variants, part...

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Detalles Bibliográficos
Autores principales: Agarwal, Amit, Sabat, Shyamsunder, Kanekar, Sangam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8901159/
https://www.ncbi.nlm.nih.gov/pubmed/35273857
http://dx.doi.org/10.7759/cureus.21902
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author Agarwal, Amit
Sabat, Shyamsunder
Kanekar, Sangam
author_facet Agarwal, Amit
Sabat, Shyamsunder
Kanekar, Sangam
author_sort Agarwal, Amit
collection PubMed
description Congenital muscular dystrophy (CMD) is a heterogeneous group of neurological disorders presenting at birth with weakness and hypotonia. Although the diagnosis is finally made through patterns of inheritance and muscle biopsy, the final imaging can be very characteristic in some of the variants, particularly the Fukuyama type of CMD (FCMD). We described the classic imaging findings in a child with this rare condition.
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spelling pubmed-89011592022-03-09 Fukuyama Congenital Muscular Dystrophy Agarwal, Amit Sabat, Shyamsunder Kanekar, Sangam Cureus Neurology Congenital muscular dystrophy (CMD) is a heterogeneous group of neurological disorders presenting at birth with weakness and hypotonia. Although the diagnosis is finally made through patterns of inheritance and muscle biopsy, the final imaging can be very characteristic in some of the variants, particularly the Fukuyama type of CMD (FCMD). We described the classic imaging findings in a child with this rare condition. Cureus 2022-02-04 /pmc/articles/PMC8901159/ /pubmed/35273857 http://dx.doi.org/10.7759/cureus.21902 Text en Copyright © 2022, Agarwal et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Neurology
Agarwal, Amit
Sabat, Shyamsunder
Kanekar, Sangam
Fukuyama Congenital Muscular Dystrophy
title Fukuyama Congenital Muscular Dystrophy
title_full Fukuyama Congenital Muscular Dystrophy
title_fullStr Fukuyama Congenital Muscular Dystrophy
title_full_unstemmed Fukuyama Congenital Muscular Dystrophy
title_short Fukuyama Congenital Muscular Dystrophy
title_sort fukuyama congenital muscular dystrophy
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8901159/
https://www.ncbi.nlm.nih.gov/pubmed/35273857
http://dx.doi.org/10.7759/cureus.21902
work_keys_str_mv AT agarwalamit fukuyamacongenitalmusculardystrophy
AT sabatshyamsunder fukuyamacongenitalmusculardystrophy
AT kanekarsangam fukuyamacongenitalmusculardystrophy

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