Muscle Biopsies and Autopsy Tissue



For autopsy specimens, a common checklist can be filled out, but the presence of specific findings in specific muscles and nerves should be evaluated and reported.Clinical History1. Gender of patient: FORMCHECKBOX male FORMCHECKBOX female2. Age at presentation: ___ years ___ months3. Age at biopsy: ___ years ___ months Age at prior muscle biopsies __________________4. Symptoms at presentation (check all that apply): FORMCHECKBOX Weakness If experiencing weakness, then indicate distribution: FORMCHECKBOX Symmetrical FORMCHECKBOX Asymmetrical FORMCHECKBOX Limb-girdle FORMCHECKBOX Proximal FORMCHECKBOX Distal FORMCHECKBOX Facioscapulohumeral FORMCHECKBOX Paraspinal FORMCHECKBOX Finger flexor FORMCHECKBOX Neck FORMCHECKBOX Other _______________________ FORMCHECKBOX Other muscle symptoms: FORMCHECKBOX Hypotonia FORMCHECKBOX Muscle pain FORMCHECKBOX Exercise intolerance FORMCHECKBOX Episodic muscle pain/cramping FORMCHECKBOX Rhabdomyolysis FORMCHECKBOX Contractures FORMCHECKBOX Failure to thrive FORMCHECKBOX Respiratory difficulties FORMCHECKBOX Skin changes FORMCHECKBOX Eye symptoms: FORMCHECKBOX Ptosis FORMCHECKBOX Ophthalmoplegia FORMCHECKBOX Joint laxity FORMCHECKBOX Clinical features of cardiac involvement/Known cardiac disease, Specify:____________________________________ FORMCHECKBOX Central nervous system disease, Specify:____________________________________ FORMCHECKBOX Exposure to toxins, supplements, or drugs (and relationship between exposure and biopsy acquisition), Specify:____________________________________ FORMCHECKBOX Others (see item 9)5. Laboratory findingsElevated creatine kinase: FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX Unknown _______ Patient Value _________(Normal Range)Elevated erythrocyte sedimentation rate (ESR): FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX Unknown _______ Patient Value______ (Normal Range) Elevated C-reactive protein (CRP): FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX Unknown _____Patient Value_______ (Normal Range)Known autoantibodies in patient: _____________________________________________________________6. EMG Findings: FORMCHECKBOX Not known FORMCHECKBOX Myopathic FORMCHECKBOX Neuropathic7. Imaging findings (brain/muscle): __________________________________________________________8. Familial Inheritance: FORMCHECKBOX None FORMCHECKBOX Autosomal Recessive FORMCHECKBOX Autosomal Dominant FORMCHECKBOX X-linked FORMCHECKBOX Maternal9. Other symptoms, signs, known diseases, and lab data: ____________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________Muscle Biopsy and Autopsy Tissue Information*Is this a biopsy or autopsy specimen? FORMCHECKBOX Biopsy FORMCHECKBOX AutopsyIf this is an autopsy specimen, what is the approximate postmortem interval? (please specify)Tissue collected: (please specify)*Size of tissue collected: ( )x( )x( ) cm*Date of tissue collection: (mm/dd/yyyy)Biopsy method: FORMCHECKBOX Open FORMCHECKBOX NeedleName of laboratory where pathology was performed: (please specify)Name of laboratory director: (please specify) FORMCHECKBOX Unknown Name of pathologist who diagnosed the case: (please specify)*Freezing or Fixation Used? FORMCHECKBOX Frozen: Amount: (please specify) mg FORMCHECKBOX Not known FORMCHECKBOX Formalin-fixed: Amount: (please specify) mg FORMCHECKBOX Not known FORMCHECKBOX Paraffin-embedded: Amount: (please specify) mg FORMCHECKBOX Not known FORMCHECKBOX Epon-embedded: Amount: (please specify) mg FORMCHECKBOX Not knownWas electron microscopy performed? FORMCHECKBOX Yes FORMCHECKBOX NoWas subsequent biochemical or genetic testing performed? FORMCHECKBOX Yes FORMCHECKBOX NoIf Yes, record results in table below:Table to input subsequent biochemical or genetic testing dataTest NameResults (including units)(data to be entered by site)(data to be entered by site)(data to be entered by site)(data to be entered by site)(data to be entered by site)(data to be entered by site)Microscopic DescriptionWhich standard histochemical stains were used*? (choose all that apply) FORMCHECKBOX H and E FORMCHECKBOX Gomori trichrome FORMCHECKBOX NADH FORMCHECKBOX COX FORMCHECKBOX SDH FORMCHECKBOX COX/SDH FORMCHECKBOX PAS FORMCHECKBOX Oil Red O FORMCHECKBOX ATPase 4.3 FORMCHECKBOX ATPase 4.6 FORMCHECKBOX ATPase 9.4 FORMCHECKBOX Acid phosphatase FORMCHECKBOX Phosphorylase FORMCHECKBOX Myoadenylate deaminase FORMCHECKBOX Esterase FORMCHECKBOX Phosphofructokinase FORMCHECKBOX Sudan black FORMCHECKBOX Other, specify: ________________________________________________________________________________________________________________________________________________________________________________________Which of the following diagnostic abnormalities were noted on histochemical stains (choose all that apply)*?Fatty infiltration FORMCHECKBOX absent FORMCHECKBOX mild FORMCHECKBOX moderate FORMCHECKBOX severeEndomysial fibrosis FORMCHECKBOX absent FORMCHECKBOX mild FORMCHECKBOX moderate FORMCHECKBOX severeMyofiber degeneration FORMCHECKBOX absent FORMCHECKBOX mild FORMCHECKBOX moderate FORMCHECKBOX severeNecrosis FORMCHECKBOX absent FORMCHECKBOX mild FORMCHECKBOX moderate FORMCHECKBOX severeMyophagocytosis FORMCHECKBOX absent FORMCHECKBOX present in ____ fibersBasophilic fibers, large nuclei FORMCHECKBOX absent FORMCHECKBOX present in _____ fibersHypertrophic fibers FORMCHECKBOX absent FORMCHECKBOX present in _____ fibers FORMCHECKBOX Approximate fiber size (largest)___________Atrophy/Hypotrophy FORMCHECKBOX absent FORMCHECKBOX present FORMCHECKBOX Approximate fiber size (smallest) ________Specify: FORMCHECKBOX All fibers within the specimen FORMCHECKBOX Subsets of fibers, leading to excessive variation in fiber sizeSpecify (choose all that apply): FORMCHECKBOX single fibers FORMCHECKBOX groups of fibers FORMCHECKBOX type 1 fibers only FORMCHECKBOX type 2 fibers only FORMCHECKBOX Perifascicular distribution FORMCHECKBOX Atrophic/hypotrophic fiber shape FORMCHECKBOX angulated FORMCHECKBOX round FORMCHECKBOX Nuclear bags/clumps FORMCHECKBOX absent FORMCHECKBOX presentMyopathy-associated pathological structures, specify:Central nuclei FORMCHECKBOX absent FORMCHECKBOX presentSpecify estimated % of fibers (include eccentric nuclei): _____Internal nuclei FORMCHECKBOX absent FORMCHECKBOX presentSpecify estimated % of fibers (if not quantified above): _____Marked hypotrophy of type 1 fibers FORMCHECKBOX absent FORMCHECKBOX presentNemaline rods/bodies FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Specify: FORMCHECKBOX Restricted to one fiber type, specify which: _____ Red inclusions on trichrome FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Rimmed vacuoles FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Non-rimmed vacuoles FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Ragged red fibers FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)COX- negative fibers FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Strongly SDH-reactive blood vessels (SSV’s) FORMCHECKBOX absent FORMCHECKBOX presentCentral cores FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Minicores FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Core-like lesions FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Targetoid fibers FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Moth-eaten fibers FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Tubular aggregates FORMCHECKBOX absent FORMCHECKBOX present in _____% of fibers) FORMCHECKBOX only seen in type ____ fibersRing fibers FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Split fibers FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Lobulated fibers FORMCHECKBOX absent FORMCHECKBOX sparse FORMCHECKBOX moderate (present in _____% of fibers)Blood vessel deposits suggestive of amyloid FORMCHECKBOX absent FORMCHECKBOX presentAbnormalities of fiber type FORMCHECKBOX absent FORMCHECKBOX presentSpecify*: FORMCHECKBOX Type 1 predominance______ % Type 1 fibers FORMCHECKBOX Type 2 predominance______% Type 2 fibers FORMCHECKBOX Fiber type grouping (of both fiber types)Absent staining for a histochemical stain:________________________________________Inflammation FORMCHECKBOX absent FORMCHECKBOX mild FORMCHECKBOX moderate FORMCHECKBOX severeSpecify: FORMCHECKBOX Distribution FORMCHECKBOX Perivascular FORMCHECKBOX Evidence of vascular damage FORMCHECKBOX Thrombi identified in blood vessels FORMCHECKBOX Focal FORMCHECKBOX Diffuse FORMCHECKBOX Endomysial FORMCHECKBOX Perimysial FORMCHECKBOX Involving fascia FORMCHECKBOX Associated with myofiber damage FORMCHECKBOX Associated with non-necrotic myofiber FORMCHECKBOX Granulomas FORMCHECKBOX Necrotizing FORMCHECKBOX Non-necrotizing FORMCHECKBOX Giant cells present FORMCHECKBOX Foreign material present FORMCHECKBOX Inflammatory cells identifiedSpecify (choose all that apply): FORMCHECKBOX Lymphocytes FORMCHECKBOX Neutrophils FORMCHECKBOX Macrophages FORMCHECKBOX Eosinophils (as a prominent component) FORMCHECKBOX Microorganisms identified, specify which: _________________________________________Abnormal storage materialSpecify:Excessive glycogen FORMCHECKBOX absent FORMCHECKBOX mild FORMCHECKBOX markedExcessive intracellular lipid FORMCHECKBOX absent FORMCHECKBOX mild FORMCHECKBOX markedIntramuscular nerve branches FORMCHECKBOX absent FORMCHECKBOX present Specify: FORMCHECKBOX Decreased axonal density FORMCHECKBOX Increased endoneurial fibrosis FORMCHECKBOX Abnormality of myelination ____________________________________________________ FORMCHECKBOX Abnormal structures _________________________________________________________Muscle spindles FORMCHECKBOX absent FORMCHECKBOX presentMyotentinous insertion sites FORMCHECKBOX absent FORMCHECKBOX presentAdditional observations____________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________Which immunohistochemical stains were used? (choose all that apply) FORMCHECKBOX Myosin immunohistochemistry FORMCHECKBOX Fast myosin _________________________________________________________________ FORMCHECKBOX Slow myosin _________________________________________________________________ FORMCHECKBOX Embryonic myosin ____________________________________________________________ FORMCHECKBOX Fetal myosin _____________________________________________________ FORMCHECKBOX Dystrophin panelSpecify: FORMCHECKBOX Dystrophin rod domain (DYS1) FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX cytoplasmic FORMCHECKBOX normal FORMCHECKBOX Dystrophin C terminus (DYS2) FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX cytoplasmic FORMCHECKBOX normal FORMCHECKBOX Dystrophin N terminus of rod domain (DYS3) FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX cytoplasmic FORMCHECKBOX normal FORMCHECKBOX Dystrophin (BMD Hotspot) FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Spectrin FORMCHECKBOX absent on necrotic fibers FORMCHECKBOX normal FORMCHECKBOX Utrophin FORMCHECKBOX normal FORMCHECKBOX increased at sarcolemma FORMCHECKBOX Other stains for limb-girdle or congenital muscular dystrophySpecify: FORMCHECKBOX Laminin ?2/Merosin (80 kDa) FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Laminin ?2/Merosin (300 kDa) FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Alpha dystroglycan (VIA4) FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Alpha dystroglycan (IIH) FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Beta dystroglycan FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Alpha sarcoglycan FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Beta sarcoglycan FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Delta sarcoglycan FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Gamma sarcoglycan FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Dysferlin FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX cytoplasmic FORMCHECKBOX normal FORMCHECKBOX Emerin FORMCHECKBOX absent FORMCHECKBOX normal FORMCHECKBOX Collagen VI FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Caveolin 3 FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Integrin ?7 FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX nNOS FORMCHECKBOX absent FORMCHECKBOX reduced FORMCHECKBOX normal FORMCHECKBOX Inflammatory myopathy panel FORMCHECKBOX CD3 FORMCHECKBOX absent FORMCHECKBOX present in ___ % of lymphocytes FORMCHECKBOX CD4 FORMCHECKBOX absent FORMCHECKBOX present in ___ % of lymphocytes FORMCHECKBOX CD8 FORMCHECKBOX absent FORMCHECKBOX present in ___ % of lymphocytes FORMCHECKBOX CD20 FORMCHECKBOX absent FORMCHECKBOX present in ___ % of lymphocytes FORMCHECKBOX CD138 FORMCHECKBOX absent FORMCHECKBOX present in ___ % of lymphocytes FORMCHECKBOX CD45 FORMCHECKBOX absent FORMCHECKBOX present in ____% of mononuclear cells FORMCHECKBOX CD68 FORMCHECKBOX absent FORMCHECKBOX present in ____% of mononuclear cells FORMCHECKBOX C5b-9 FORMCHECKBOX absent FORMCHECKBOX present on endomysial capillary walls FORMCHECKBOX cytoplasmic staining of necrotic fibers FORMCHECKBOX Major Histocompatability Complex FORMCHECKBOX absent FORMCHECKBOX focal FORMCHECKBOX diffuse FORMCHECKBOX sarcolemmal FORMCHECKBOX cytoplasmic FORMCHECKBOX Protein aggregate myopathy panel FORMCHECKBOX Desmin FORMCHECKBOX normal FORMCHECKBOX increased FORMCHECKBOX Myotilin FORMCHECKBOX normal FORMCHECKBOX increased FORMCHECKBOX ?B crystallin FORMCHECKBOX normal FORMCHECKBOX increased FORMCHECKBOX Ubiquitin FORMCHECKBOX normal FORMCHECKBOX increased Additional immunohistochemical/immunofluorescence assays performed: __________________________________________________________________________________Other abnormalities noted on immunohistochemistry: __________________________________Epon-Embedded Tissue/Electron Microscopy Abnormalities seen on: FORMCHECKBOX Light microscopy (Toluidine blue staining) FORMCHECKBOX Electron microscopy FORMCHECKBOX Both – Light microscopy and Electron microscopyAbnormalities noted in: FORMCHECKBOX Nuclei FORMCHECKBOX Contractile apparatus FORMCHECKBOX Sarcotubular organization FORMCHECKBOX Mitochondria, specify (choose all that apply): FORMCHECKBOX Abnormal size FORMCHECKBOX Large FORMCHECKBOX Small FORMCHECKBOX Abnormal shape FORMCHECKBOX Abnormal numbers FORMCHECKBOX Abnormal location FORMCHECKBOX Abnormal architecture FORMCHECKBOX Basal lamina FORMCHECKBOX Satellite cells FORMCHECKBOX Intramuscular nerve twigsDescribe any pathological inclusions noted: FORMCHECKBOX N/A __________________________________________________________________________________________________________________________________________________________________________________Describe any abnormal storage material identified: FORMCHECKBOX N/A __________________________________________________________________________________________________________________________________________________________________________________General InstructionsThis form contains data elements that are collected when performing various muscle biopsies.Important note: The data elements included in this CRF module span the range of diagnostic abnormalities seen in both pediatric and adult neuromuscular biopsy specimens. While each of these specific elements does not need to be included in every clinical biopsy report, this checklist provides a list of potentially pertinent positive and negative findings that should be considered when reporting a muscle biopsy. While the usefulness of these specific findings will depend on the differential diagnosis on a clinical case, all of these findings can be clinically important in specific situations. In cases where a specific diagnosis is not clear, it is recommended to evaluate and report the presence or absence of these findings to facilitate subsequent attempts to select biopsies for genetic testing or enrollment in research studies.Specific InstructionsPlease see the Data Dictionary for definitions for each of the data elements included in this CRF module.Clinical History: These elements should be included, when available, to communicate the understanding the pathologist had of the participant/ subject’s clinical symptoms.Size of tissue collected – This information may not be available for autopsy tissue. ................
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