Literature DB >> 19826857

Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy.

Juan J Figueroa1, John E Chapin.   

Abstract

We report two elderly siblings with atypical myopathic weakness due to facioscapulohumeral dystrophy (FSHD). The proband presented with isolated facial diplegia, and her brother developed late onset facial and limb-girdle weakness. Both siblings had a 4q35 deletion with the same residual fragment size (25 kb) confirming FSHD. This report highlights the clinical heterogeneity and intrafamily variability of FSHD.

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Year:  2009        PMID： 19826857     DOI： 10.1007/s00415-009-5346-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  22 in total

1.  Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.

Authors:  P de Kievit; M van Geel; M J van der Wielen; E Bakker; G W Padberg; R R Frants; S M van der Maarel
Journal:  Ann Neurol       Date:  2001-12       Impact factor: 10.422

2.  FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy.

Authors:  K J Felice; W A North; S A Moore; K D Mathews
Journal:  Neurology       Date:  2000-05-23       Impact factor: 9.910

3.  Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Authors:  R Tupler; L Barbierato; M Memmi; C A Sewry; D De Grandis; P Maraschio; L Tiepolo; A Ferlini
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

4.  Early onset facioscapulohumeral muscular dystrophy.

Authors:  O F Brouwer; G W Padberg; E Bakker; C Wijmenga; R R Frants
Journal:  Muscle Nerve Suppl       Date:  1995

5.  On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy.

Authors:  G W Padberg; O F Brouwer; R J de Keizer; G Dijkman; C Wijmenga; J J Grote; R R Frants
Journal:  Muscle Nerve Suppl       Date:  1995

6.  FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.

Authors:  J C van Deutekom; C Wijmenga; E A van Tienhoven; A M Gruter; J E Hewitt; G W Padberg; G J van Ommen; M H Hofker; R R Frants
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

7.  Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family.

Authors:  Kevin J Felice; Jennifer M Jones; Stephen R Conway
Journal:  Muscle Nerve       Date:  2005-09       Impact factor: 3.217

8.  Early-onset facioscapulohumeral muscular dystrophy: two case reports.

Authors:  A Okinaga; T Matsuoka; J Umeda; I Yanagihara; K Inui; T Nagai; S Okada
Journal:  Brain Dev       Date:  1997-12       Impact factor: 1.961

9.  Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion.

Authors:  Michael Krasnianski; Katharina Eger; Stephan Neudecker; Sibylle Jakubiczka; Stephan Zierz
Journal:  Arch Neurol       Date:  2003-10

10.  Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

Authors:  A Uncini; G Galluzzi; A Di Muzio; M V De Angelis; E Ricci; C Scoppetta; S Servidei
Journal:  Neuromuscul Disord       Date:  2002-11       Impact factor: 4.296
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  6 in total

1.  [Facioscapulohumeral muscular dystrophy. Clinical picture, atypical forms, diagnostics, genetics].

Authors:  B Jordan; C Müller-Reible; S Zierz
Journal:  Nervenarzt       Date:  2011-06       Impact factor: 1.214

Review 2.  Tetraplegia or paraplegia with brachial diparesis? What is the most appropriate designation for the motor deficit in patients with lower cervical spinal cord injury?

Authors:  Nicandro Figueiredo; Iara Eberhard Figueiredo; Daniel Resnick
Journal:  Neurol Sci       Date:  2012-07-24       Impact factor: 3.307

Review 3.  Motor exam of patients with spinal cord injury: a terminological imbroglio.

Authors:  Nicandro Figueiredo
Journal:  Neurol Sci       Date:  2017-03-29       Impact factor: 3.307

4.  Elderly onset of weakness in facioscapulohumeral muscular dystrophy.

Authors:  Dominic B Fee
Journal:  Case Rep Neurol Med       Date:  2012-09-18

5.  Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.

Authors:  G Ricci; M Zatz; R Tupler
Journal:  Curr Mol Med       Date:  2014       Impact factor: 2.222

6.  Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.

Authors:  Lucia Ruggiero; Fabiano Mele; Fiore Manganelli; Dario Bruzzese; Giulia Ricci; Liliana Vercelli; Monica Govi; Antonio Vallarola; Silvia Tripodi; Luisa Villa; Antonio Di Muzio; Marina Scarlato; Elisabetta Bucci; Giovanni Antonini; Lorenzo Maggi; Carmelo Rodolico; Giuliano Tomelleri; Massimiliano Filosto; Stefano Previtali; Corrado Angelini; Angela Berardinelli; Elena Pegoraro; Maurizio Moggio; Tiziana Mongini; Gabriele Siciliano; Lucio Santoro; Rossella Tupler
Journal:  JAMA Netw Open       Date:  2020-05-01
  6 in total

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