Oculopharyngeal muscular dystrophy (OPMD): management

Evidence-based neurology checklist on oculopharyngeal muscular dystrophy (opmd): management: Magnetic resonance imaging (MRI) muscle This shows fatty replacement of muscles It is especially marked in the adductor magnus and the soleus It correlates with disease duration and severity Muscle biopsy:…

Magnetic resonance imaging (MRI) muscle

  • This shows fatty replacement of muscles
  • It is especially marked in the adductor magnus and the soleus
  • It correlates with disease duration and severity

Muscle biopsy: features

Swallowing assessments

Cardiac investigations

Other investigations

Treatment of dysphagia

Other treatments

Experimental treatments

References

  1. Hill ME, Creed GA, McMullan TFW, et al. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain 2001; 124:522-526.
  2. Blumen SC, Bouchard J-P, Brais B, et al. Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology 2009; 73:596-601.
  3. Bertorini TE. Neuromuscular Case Studies. Butterworth Heinemann Philadelphia 2008 pp494-495. 
  4. Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, et al. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy. JNNP 2019; 90:576-585.
  5. Tomé FM, Fardeau M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol 1980; 49:85-87.
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