Oculopharyngodistal and oculopharyngeal myopathies do not have the same pattern of muscle involvement on imaging

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Oculopharyngodistal myopathy (OPDM), which is very rare, differs from oculopharyngeal myopathy (OPMD) both genetically and clinically. Japanese researchers sought to identify these differences using magnetic resonance imaging (MRI):

  • 54 patients with one of the three subtypes of OPDM and 57 patients with OPMD were included in a comparative study,
  • OPDM patients had the same MRI profile, regardless of genetic cause (LPR12, GIPC1, NOTCH2NLC, or RILPL1),
  • this profile was distinct from that observed in OPMD (where the gluteus minimus, gluteus medius and adductor magnus muscles were most affected).

The authors stress the importance of this non-invasive tool, which is extremely useful for establishing the natural history of these two myopathies.

 

Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy. Eura N, Noguchi S, Ogasawara M et al. J Neurol. 2023 Aug

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