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Spinal Muscular Atrophy

Scapuloperoneal Neuronopathy: TRPV4 mutations

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H & E stain

Morphology Muscle fibers   Small & Intermediate-sized     Angular & Polygonal   Hypertrophic   Internal nuclei: Often multiple Grouped muscle fiber atrophy

H & E stain

Internal nuclei Congo red stain

Pyknotic nuclear clumps Congo red stain

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Internal architecture: Irregular in larger muscle fibers NADH stain

NADH stain

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VvG stain Chronic changes   Internal nuclei   Partial fusion of muscle fibers   Capillary inside muscle fiber   Pyknotic nuclear clumps

Gomori trichrome stain

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Cytoplasmic bodies in a small muscle fiber Gomori trichrome stain

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Muscle fiber types: Type 1 predominance; No fiber type grouping ATPase, pH 9.4

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Vacuoles in Muscle fibers H & E stain

H & E stain

Gomori trichrome stain

Congo red stain Vacuoles   Contain basophilic granular debris   May be near eosinophilic cytoplasmic bodies

Congo red stain

Congo red stain

Congo red stain

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Aggregates   Irregular; Dark; Cytoplasmic   May be near or around internal nuclei Caveolin-3 stain

Caveolin-3 stain

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Caveolin-3 may also stain rim of vacuoles Caveolin-3 stain

Caveolin-3 staining around internalized capillary Caveolin-3 stain

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8/23/2023