Oculopharyngodistal myopathy (OPDM)
Evidence-based neurology checklist on oculopharyngodistal myopathy (opdm): Genetic types OPMD type 1: LRP12 CGG repeat expansions OPMD type 2: GIPC1 CGG repeat expansions OPMD type 3: NOTCH2NLC CGG repeat expansions OPMD type 4: RILPL1 CGG repeat expansions Neurological features Cardiac features…
Genetic types
- OPMD type 1: LRP12 CGG repeat expansions
- OPMD type 2: GIPC1 CGG repeat expansions
- OPMD type 3: NOTCH2NLC CGG repeat expansions
- OPMD type 4: RILPL1 CGG repeat expansions
Neurological features
Cardiac features
Other features
Differential diagnosis
Investigations
Respiratory treatment
References
- Mastaglia FL, Laing NG. Distal myopathies: clinical and molecular diagnosis and clarification. JNNP 1999; 67:703-709.
- Malicdan MCV, Nonaka I. Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles. Neurol India 2008; 56:314-324.
- Durmus H, Laval SH, Deymeer F, et al. Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients. Neurology 2011; 76:227-235.
- Kumutpongpanich T, Ogasawara M, Ozaki A, et al. Clinicopathologic features of oculopharyngodistal myopathy with LRP12 CGG repeat expansions compared with other oculopharyngodistal myopathy subtypes. JAMA Neurol 2021; 78:853-863.
- An R, Chen H, Gu W, Xu Y, He C. Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China. Neurol Sci 2022; 43:3989-3993.
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