Article Text

Download PDFPDF
PONM04 Myofibrillar myopathy caused by a mutation in the desmin gene: expanding the phenotype
  1. C Albertyn,
  2. C Maguire,
  3. R P Murphy
  1. Neurology Department, Adelaide and Meath Hospital, Dublin, Ireland
  1. Correspondence to christine.albertyn{at}


Background Myofibrillar myopathy (MFM) is a group of morphologically distinct muscle disorders, with genetic and phenotypic variability. When a mutation in the desmin gene is found, it is termed a desminopathy. These patients often present with distal muscle weakness in the lower limbs spreading to involve proximal muscle groups. Cardiomyopathy may be a prominent finding. To our knowledge, vocal cord palsy has not been described in this condition.

Case Description A 48-year-old man presented at the age of 39 years with progressive, predominantly distal, lower limb weakness and bilateral ankle contractures. He developed a cardiomyopathy and arrhythmias. Three men in his family were similarly affected and passed away in their fifties. Recently, he presented with hoarseness with bilateral vocal cord palsies confirmed on laryngoscopy.

Results of Investigations Limb EMG confirmed an active myopathic process. The muscle biopsy showed fibre size variation and rimmed vacuoles. Genetic testing identified a heterozygous mutation in the desmin gene (c.1346A>C (p.Lys449Thr)).

Discussion Vocal cord palsy has been described in the autosomal dominant myopathy: vocal cord and pharyngeal weakness with distal myopathy (VCPDM). However, it has not been described in association with a desminopathy and therefore expands the phenotype of this myofibrillar myopathy subgroup.

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.