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hATTR clinical epidemiologic characteristic
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99mTc-DPD scan of cardiac ATTR
Contributed by Chunyu Cai, M.D., Ph.D.
Early amyloid neuropathy
Nerve edema
Congo red amyloid deposit
Congo red polarized
Loss of small myelinated axons
Late amyloid neuropathy
Nerve edema
Congo red amyloid deposit
Congo red polarized
C5b9 amyloid deposit
Small and large axon loss
Hereditary transthyretin amyloid neuropathy
Nerve Congo red
Nerve plastic section
Muscle Congo red
Muscle TTR
AL amyloid neuropathy
Congo red
Lambda IHC
Lambda in situ hybridization
Transthyretin IHC
Contributed by Chunyu Cai, M.D., Ph.D.
Amyloid deposit
The principles for pathology confirmation of amyloidosis and significance of subtyping
Contributed by Chunyu "Hunter" Cai, M.D., Ph.D.
Jo1 myositis
Jo1 myositis MCH1
Jo1 myositis C5b9
Jo1 myositis myopathy alkaline phosphatase
PL7 myositis
PL7 myositis ATPase pH 4.3
PL7 myositis alkaline phosphatase
PL7 myositis MCH1
PL7 myositis C5b9
Contributed by Dennis Burns, M.D. and Chunyu "Hunter" Cai, M.D., Ph.D.
Intranuclear actin filament aggregates
Endothelial tubuloreticular inclusion
Contributed by Jesse L. Kresak, M.D.
Myopathic changes
Fatty replacement
End stage muscle
Dystrophin IHC control
Dystrophin IHC in Duchenne muscular dystrophy
Dystrophin IHC in Becker muscular dystrophy
Contributed by Jesse L. Kresak, M.D.
H&E
NADH and NADH1
SDH
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Selective muscle involvement in a 59 year-old man
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Elongated face and inverted V shaped mouth
Contributed by Marie Rivera-Zengotita, M.D.
H&E
NADH
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Heliotrope rash: the "classic" violaceous rash over the eyes and the malar region of the face
Gottron's papules: erythematous papules on the dorsum of MCP or interphalangeal joints; biopsy shows acanthosis and hyperkeratosis with vacuolar change and a scattered perivascular inflammatory infiltrate
Calcinosis: subcutaneous cases occur in long term, intractable cases, usually of juvenile type
Contributed by Meggen Walsh, D.O., M.S., P.A. and Jesse L. Kresak, M.D.
Perifascicular atrophy
Perifascicular atrophy stain
GMS
Myosin I/II immunostain
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Weakness of lips and shoulder muscles
Contributed by Chunyu Cai, M.D., Ph.D.
Case 1: 70 year old man with genetically confirmed FSHD1 (8 D4Z4 repeats on a 4qA haplotype)
Chronic
Fiber size variation
Fiber type grouping
Lobulated internal architecture
Lobulated internal architecture
MHC1
Lobulated fiber on EM
Misoriented sarcomere on EM
Case 2: 63 year old woman with genetically confirmed FSHD1 (2 D4Z4 repeats on a 4qA haplotype)
Chronic myopathy with inflammation
Type 1 predominance
Lobulated internal architecture NADH
MHC1
Terminal complement complex
Case 3: 66 year old man with heterozygous pathogenic mutation of SMCHD1 and a FSHD phenotype, consistent with FSHD2
FSHD2 muscle biopsy
FSHD2 ATPase 4.3
Hyaline bodies GT
Hyaline bodies, desmin
Lobulated internal architecture, NADH
EM hyaline body
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Schematic of D4Z4
Facioscapulohumeral muscular dystrophy (Year of the Zebra)
FSHD patient's diagnostic journey
FSHD genetics
Contributed by Truong Phan Xuan Nguyen, M.D.
Metabolic glycolytic pathway
| GSD 0 | GYS1 (skeletal muscle) or GYS2 (liver) | Glycogen synthase 1 | Autosomal recessive | Glycogen synthase 1 deficiency |
| GSD II | GAA | Acid maltase | Autosomal recessive | Acid maltase deficiency; Pompe disease |
| GSD III | AGL | Debrancher enzyme | Autosomal recessive | Debrancher enzyme deficiency; Cori-Forbes disease |
| GSD IV | GBE1 | Branching enzyme | Autosomal recessive | Branching enzyme deficiency; Andersen disease |
| GSD V | PYGM | Glycogen phosphorylase | Autosomal recessive | Glycogen phosphorylase deficiency; McArdle disease |
| GSD VII | PFKM | Phosphofructokinase | Autosomal recessive | Phosphofructokinase deficiency; Tarui disease |
| GSD IXd | PHKA1 | Phosphorylase kinase | X linked inheritance | Phosphorylase kinase deficiency |
| Phosphoglycerate kinase deficiency | PGK1 | Phosphoglycerate kinase | X linked inheritance | N/A |
| GSD X | PGAM2 | Phosphoglycerate mutase | Autosomal recessive | Phosphoglycerate mutase deficiency |
| GSD XI | LDHA | Lactate dehydrogenase | Autosomal recessive | Lactate dehydrogenase deficiency |
| GSD XII | ALDOA | Aldolase A | Autosomal recessive | Aldolase A deficiency |
| GSD XIII | ENO3 | β enolase | Autosomal recessive | β enolase deficiency |
| GSD XIV | PGM1 | Phosphoglucomutase | Autosomal recessive | Phosphoglucomutase deficiency |
| GSD XV | GYG1 | Glygogenin 1 | Autosomal recessive | Glygogenin 1 deficiency |
Contributed by Ichizo Nishino, M.D., Ph.D.
GSD 0: no specific changes
GSD 0: glycogen depletion
GSD II childhood: marked sarcoplasmic vacuoles
GSD II childhood: PAS
GSD II childhood: epon PAS
GSD II childhood: NADH TR
GSD II childhood:
predominant
involved
type 1 fibers
GSD II childhood:
high acid
phosphatase
activity
GSD II childhood: modified Gomori trichrome
GSD II childhood:
MHC I
GSD II adult: small vacuoles
GSD II adult: modified Gomori trichrome
GSD II adult: epon PAS
GSD II adult: increased acid phosphatase activity
GSD III: nonmembrane bound vacuoles
GSD III: PAS positive
GSD III: MHC I
GSD IV: fibrosis
fibers and rounded
opalescent
inclusions
GSD IV: PAS
GSD IV: modified Gomori trichrome
GSD V: small sarcolemmal vacuoles
GSD V: PAS
GSD V: negative PHS
GSD VII: small sarcolemmal vacuoles
GSD VII: PAS
GSD VII:
phosphofructokinase
is negative
Contributed by Ichizo Nishino, M.D., Ph.D.
GSD II childhood: membrane bound vacuoles
GSD II adult: membrane bound vacuoles
GSD III: nonmembrane bound glycogen
GSD IXd: sarcoplasmic glycogen deposits
Contributed by Chunyu "Hunter" Cai, M.D., Ph.D.
HMGCR myopathy
HMGCR myopathy - MHC1
HMGCR myopathy - C5b9
HMGCR myopathy - alkaline phosphatase
Contributed by Meggen Walsh, D.O., M.S., P.A.
Myopathic features
Ubiquitin
CD3
Gomori trichrome
Contributed by Chunyu Cai, M.D., Ph.D.
Interstitial macrophages
Electron dense inclusions
Contributed by Chunyu Cai, M.D., Ph.D.
Case 1: Muscle biopsy from a 7 year old boy with clinical phenotype of congenital myopathy
and pathology finding of multiminicore disease; genetic analysis was denied
Classic multiminicore low
Classic multiminicore high
Case 2: Muscle biopsy from a 12 year old boy with multiple heterozygous RYR1 mutations
Minicore RYR1 FSV and internal nuclei
Minicore RYR1 type I smallness
Multiminicores RYR1 on NADH
Multiminicore RYR1 on toluidine blue
Case 3: Muscle biopsy from a 2 year old girl with 2 heterozygous TTN mutations
Multiminicore TTN low
Multiminicore TTN high
NADH type I predominance
NADH minicores
Contributed by Chunyu Cai, M.D., Ph.D.
Case 2: Muscle biopsy from a 12 year old boy with multiple heterozygous RYR1 mutations
Multiminicore RYR1
Variable sized cores RYR1
Central core RYR1
Case 3: Muscle biopsy from a 2 year old girl with 2 heterozygous TTN mutations
Small multiminicore TTN low
Small multiminicore TTN high
Contributed by Jesse L. Kresak, M.D
Scattered internal nuclei
Increased internal nuclei
Markedly increased internal nuclei
Fatty replacement and ring fibers
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DM2 muscle biopsy: FISH and MBNL1 immunofluorescence
Contributed by Wesley M. Hiser, M.D.
H&E
Gomori trichrome
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Nemaline rods
Contributed by Meggen Walsh, D.O., M.S., P.A.
Skeletal muscle: multiple nuclear "clumps" or nuclear "bags"; also few atrophic angulated myofibers (H&E)
Table 1: Genetic diseases with shared features of progressive ptosis and dysphagia
| Gene | Site | Heritance | Genetic defect | Clinical | Reference |
| PABPN1 | 14q11.2 | AD | GCN repeats | Late onset OPMD | Acta Neuropathol 2022;144:1157 |
| HNRNPA2B1 | 7p15.2 | AD | Frameshift | Early onset OPMD | Nat Commun 2022;13:2306 |
| LRP12 | 8q22.3 | AD | CGG repeats | Oculopharyngeal distal myopathy (OPDM) type 1 | JAMA Neurol 2021;78:853 |
| GIPC1 | 19p13.12 | AD | CGG repeats | OPDM type 2 | Am J Hum Genet 2020;106:793 |
| NOTCH2NLC | 1q21.2 | AD | CGG repeats | OPDM type 3 | Nat Genet 2019;51:1222 |
| RILPL1 | 12q27.31 | AD | CGG repeats | OPDM type 4 | Am J Hum Genet 2022;109:533 |
| NUTM2B::AS1 | 10q22.3 | AD | CGG repeats | Oculopharyngeal myopathy with leukodystrophy (OPML) | Nat Genet 2019;51:1222 |
Contributed by Chunyu Cai, M.D., Ph.D.
Myopathy with rimmed vacuoles
Gomori trichrome
Acid phosphatase
COX SDH double stain
MHC1
Contributed by Chunyu Cai, M.D., Ph.D.
Intranuclear tubulofilamentous inclusion
Filaments reveal tubular nature
Contributed by Carrie A. Mohila, M.D., Ph.D., Matthew Cykowski, M.D. and Chunyu Cai, M.D., Ph.D.
Endomysial lymphocytic inflammation
Endomysial lymphocytic infiltrate
CD3+ lymphocytic infiltrate
Predominantly CD8+ lymphocytic infiltrate
MHC1
Polymyositis MHC1
Amato: 2015
Bilbao: 2014
Cooper: 2015
Dubowitz: 2020
Gray: 2018
Husain: 2021
Zhou: 2019
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