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

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