Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Daniel Birchall - , Regional Neuroscience Centre (Autor:in)
  • Maja Von Der Hagen - , Newcastle University (Autor:in)
  • David Bates - , Newcastle University (Autor:in)
  • Kate M.D. Bushby - , Newcastle University (Autor:in)
  • Patrick F. Chinnery - , Newcastle University (Autor:in)

Abstract

We recently described a dominant limb myopathy characterised by early respiratory failure whilst affected individuals were still ambulant (autosomal dominant myopathy with early respiratory failure). Early diagnosis and exclusion of this disorder is difficult because of the insidious onset in late adult life and the highly selective muscle involvement, both clinically and pathologically. We performed muscle magnetic resonance imaging on seven cases of autosomal dominant myopathy with early respiratory failure (age range 37-66 years, 4 male) and show selective early involvement of semitendinosus and obturator externus on magnetic resonance imaging that cannot be detected clinically, with different rates of progression in closely related muscles. These findings are specific to autosomal dominant myopathy with early respiratory failure and enable early non-invasive diagnosis for individuals at risk.

Details

OriginalspracheEnglisch
Seiten (von - bis)595-600
Seitenumfang6
FachzeitschriftNeuromuscular Disorders
Jahrgang15
Ausgabenummer9-10
PublikationsstatusVeröffentlicht - Okt. 2005
Peer-Review-StatusJa
Extern publiziertJa

Externe IDs

Scopus 23744502938
PubMed 16084088

Schlagworte

Schlagwörter

  • Distal myopathy, Inclusion body myopathy, Magnetic resonance imaging, Semitendinosus