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OCULOPHARYNGEAL MUSCULAR DYSTROPHY

Aggregates Cytoplasmic bodies Nuclear inclusions Vacuoles

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H&E stain

H&E stain

Fiber morphology
  Size: Varied
  Small fibers: Rounded or Angular; Some are basophilic
  Vacuoles: Occur in small fibers
  Internal nuclei: Occasional muscle fibers

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Vacuoles

H&E stain

H&E stain

Gomori trichrome stain Vacuoles   May have rims (Above)   Basophilic granular debris (Below) Congo red stain

Gomori trichrome stain

Vacuoles
  Location: In small polygonal or angular muscle fibers
  Shape: Irregular
  Subcellular location: Peripheral (Sub-Sarcolemmal) or Central
  May be clear or contain red stained (GT) or granular material (Congo red)

Gomori trichrome stain

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Congo red stain

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NADH stain Small fibers stain darkly on NADH

Caveolin-3 stain

Cytoplasmic aggregates

LC-3 stain

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Nuclei: Tubulofilamentous Inclusions

Gomori trichrome stain Internal nuclei: May have clear centers

Nuclear inclusions, Tubulofilamentous ·   Form tangles & palisades ·   Size: 8.5 nm diameter; Up to 0.25 μm length ·   ? Specific marker for disease

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From Chunyu (Hunter) Cai

Nuclear inclusion: Small & Pale

From Chunyu (Hunter) Cai

From Chunyu (Hunter) Cai

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From Chunyu (Hunter) Cai

Nuclear inclusion: Replaces most nuclear contents

From Chunyu (Hunter) Cai

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OPMD: Cytoplasmic Bodies

Gomori trichrome stain Cytoplasmic bodies: May be seen in some small muscle fibers

From Chunyu (Hunter) Cai

From Chunyu (Hunter) Cai

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4/9/2021