Literature DB >> 6877535

Congenital muscular dystrophy and rigid spine syndrome.

B Echenne, J Astruc, D Brunel, M Pages, P Baldet, G Martinazzo.   

Abstract

In three patients with muscular dystrophy, the unexpected occurrence of spinal stiffness suggested a diagnosis of rigid spine syndrome. One case belongs to the benign form of the congenital muscular dystrophies; in the other cases however, the severity and the distribution of the muscular process, associated with neurological abnormalities, seems to correspond to a unique variant of congenital muscular dystrophy. These observations underline the heterogeneity of the rigid spine syndrome.

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Year:  1983        PMID: 6877535     DOI: 10.1055/s-2008-1059561

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  6 in total

1.  The rigid spine syndrome in two sisters.

Authors:  J A Vanneste; P B Augustijn; F C Stam
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-01       Impact factor: 10.154

2.  The rigid spine syndrome.

Authors:  E T van Munster; E M Joosten; M A van Munster-Uijtdehaage; H J Kruls; H J ter Laak
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-11       Impact factor: 10.154

3.  The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases.

Authors:  E Bertini; R Marini; G Sabetta; G P Palmieri; L G Spagnoli; M L Vaccario; T de Barsy
Journal:  J Neurol       Date:  1986-08       Impact factor: 4.849

4.  Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.

Authors:  L Palmucci; T Mongini; C Doriguzzi; M Maniscalco; D Schiffer
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-01       Impact factor: 10.154

5.  Rigid spine syndrome: a radiologic and manometric study of the pharynx and esophagus.

Authors:  Joerg-Patrick Stübgen
Journal:  Dysphagia       Date:  2007-08-13       Impact factor: 3.438

6.  Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Authors:  Ana Ferreiro; Susana Quijano-Roy; Claire Pichereau; Behzad Moghadaszadeh; Nathalie Goemans; Carsten Bönnemann; Heinz Jungbluth; Volker Straub; Marcello Villanova; Jean-Paul Leroy; Norma B Romero; Jean-Jacques Martin; Francesco Muntoni; Thomas Voit; Brigitte Estournet; Pascale Richard; Michel Fardeau; Pascale Guicheney
Journal:  Am J Hum Genet       Date:  2002-08-21       Impact factor: 11.025

  6 in total

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