Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of...
Transcript of Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of...
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Diseases of Skeletal Muscle
Anne Buckley MD PhD
Neuropathology
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Chapter 27 R&C
1. Neurogenic atrophy
2. Muscular dystrophies
3. “Congenital” myopathies
4. Metabolic myopathies
5. Inflammatory myopathies
6. Toxic myopathies
7. Diseases of the neuromuscular junction
![Page 3: Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of Skeletal Muscle Anne Buckley MD PhD Neuropathology . ... A patient that presents with muscle weakness](https://reader031.fdocuments.in/reader031/viewer/2022030421/5aa8fa407f8b9a90188c38b7/html5/thumbnails/3.jpg)
Normal muscle architecture
anatomyforme.blogspot.com
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emedicine.medscape.com
Type 1 and Type 2 fibers (ultrastructure)
Type 1
Aerobic, oxidative
Abundant, large mitochondria
Numerous lipid droplets
Type 2
Anaerobic, glycolytic
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Chapter 27 R&C
1. Neurogenic atrophy
2. Muscular dystrophies
3. “Congenital” myopathies
4. Metabolic myopathies
5. Inflammatory myopathies
6. Toxic myopathies
7. Diseases of the neuromuscular junction
![Page 6: Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of Skeletal Muscle Anne Buckley MD PhD Neuropathology . ... A patient that presents with muscle weakness](https://reader031.fdocuments.in/reader031/viewer/2022030421/5aa8fa407f8b9a90188c38b7/html5/thumbnails/6.jpg)
Type grouping & grouped atrophy
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Atrophied fibers
Histopathology of
neurogenic atrophy
Normal
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www.pathology.vcu.edu
How fiber type grouping occurs
in denervating (neurogenic) disorders
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Peripheral nerve damage
• Diabetes mellitus
• Demyelinating disorders
Motor neuron disorders
• Amyotrophic lateral sclerosis (upper & lower motor neurons)
• Spinal muscular atrophy (lower motor neurons)
http
://bra
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Causes of
neurogenic atrophy
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Spinal Muscular Atrophy (infantile motor neuron disease: SMN1 mutations)
SMA Type 1 (in utero … 3 years)
SMA Type 2 (3 months … 4+ years)
SMA Type 3 (2+ years … adulthood)
Arch Iranian Med (2004) 7: 47
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Chapter 27 R&C
1. Neurogenic atrophy
2. Muscular dystrophies
3. “Congenital” myopathies
4. Metabolic myopathies
5. Inflammatory myopathies
6. Toxic myopathies
7. Diseases of the neuromuscular junction
![Page 11: Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of Skeletal Muscle Anne Buckley MD PhD Neuropathology . ... A patient that presents with muscle weakness](https://reader031.fdocuments.in/reader031/viewer/2022030421/5aa8fa407f8b9a90188c38b7/html5/thumbnails/11.jpg)
Muscular dystrophies: >100 disorders of the sarcolemma
http://www.indianews365.com neuromuscular.wustl.edu
Fas
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A muscular dystrophy: Duchenne
http://picasaweb.google.com
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Dystrophin expression
Gower maneuver
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Chapter 27 R&C
1. Neurogenic atrophy
2. Muscular dystrophies
3. “Congenital” myopathies
4. Metabolic myopathies
5. Inflammatory myopathies
6. Toxic myopathies
7. Diseases of the neuromuscular junction
![Page 14: Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of Skeletal Muscle Anne Buckley MD PhD Neuropathology . ... A patient that presents with muscle weakness](https://reader031.fdocuments.in/reader031/viewer/2022030421/5aa8fa407f8b9a90188c38b7/html5/thumbnails/14.jpg)
Central core disease (an ion channel myopathy)
Nemaline rod myopathy
Centronuclear myopathy
“Congenital” myopathies
(floppy babies):
http
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Chapter 27 R&C
1. Neurogenic atrophy
2. Muscular dystrophies
3. “Congenital” myopathies
4. Metabolic myopathies
5. Inflammatory myopathies
6. Toxic myopathies
7. Diseases of the neuromuscular junction
![Page 16: Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of Skeletal Muscle Anne Buckley MD PhD Neuropathology . ... A patient that presents with muscle weakness](https://reader031.fdocuments.in/reader031/viewer/2022030421/5aa8fa407f8b9a90188c38b7/html5/thumbnails/16.jpg)
A metabolic myopathy:
McArdle Disease (GSD IV)
•Myophosphorylase deficiency
•Exertional myalgia, rhabdomyolysis
Courte
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PAS stain for glycogen
H&E stain
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A metabolic disorder: Mitochondrial myopathy
www.pathology.vcu.edu
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Normal mitochondrian
“ragged red” fiber
Paracrystalline arrays
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Chapter 27 R&C
1. Neurogenic atrophy
2. Muscular dystrophies
3. “Congenital” myopathies
4. Metabolic myopathies
5. Inflammatory myopathies
6. Toxic myopathies
7. Diseases of the neuromuscular junction
![Page 19: Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of Skeletal Muscle Anne Buckley MD PhD Neuropathology . ... A patient that presents with muscle weakness](https://reader031.fdocuments.in/reader031/viewer/2022030421/5aa8fa407f8b9a90188c38b7/html5/thumbnails/19.jpg)
An inflammatory myopathy:
Dermatomyositis W
ikim
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ia c
om
mons
*Strongly associated with cancer*
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Courtesy Ed Bossen
Dermatomyositis
Perifascicular atrophy
Perivascular
inflammation
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An inflammatory myopathy:
Inclusion Body Myositis
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Inclusion body myositis ne
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Rimmed vacuoles
Ultrastructure: filaments in vacuoles
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Chapter 27 R&C
1. Neurogenic atrophy
2. Muscular dystrophies
3. “Congenital” myopathies
4. Metabolic myopathies
5. Inflammatory myopathies
6. Toxic myopathies
7. Diseases of the neuromuscular junction
![Page 24: Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of Skeletal Muscle Anne Buckley MD PhD Neuropathology . ... A patient that presents with muscle weakness](https://reader031.fdocuments.in/reader031/viewer/2022030421/5aa8fa407f8b9a90188c38b7/html5/thumbnails/24.jpg)
Statin-induced necrotizing myopathy
Colchicine-induced vacuolar myopathy
Steroid myopathy
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Toxic myopathies:
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Chapter 27 R&C
1. Neurogenic atrophy
2. Muscular dystrophies
3. “Congenital” myopathies
4. Metabolic myopathies
5. Inflammatory myopathies
6. Toxic myopathies
7. Diseases of the neuromuscular junction
![Page 26: Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of Skeletal Muscle Anne Buckley MD PhD Neuropathology . ... A patient that presents with muscle weakness](https://reader031.fdocuments.in/reader031/viewer/2022030421/5aa8fa407f8b9a90188c38b7/html5/thumbnails/26.jpg)
A neuromuscular junction disorder:
Myasthenia gravis
ww
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Adams and Victor's Neurology
healthmad.com adkpathcourse.blogspot.com
Normal
motor
endplate
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Chapter 27 R&C
1. Neurogenic atrophy
2. Muscular dystrophies
3. “Congenital” myopathies
4. Metabolic myopathies
5. Inflammatory myopathies
6. Toxic myopathies
7. Diseases of the neuromuscular junction
![Page 28: Diseases of Skeletal Muscle - Duke University · PDF file · 2015-01-13Diseases of Skeletal Muscle Anne Buckley MD PhD Neuropathology . ... A patient that presents with muscle weakness](https://reader031.fdocuments.in/reader031/viewer/2022030421/5aa8fa407f8b9a90188c38b7/html5/thumbnails/28.jpg)
Malignant Hyperthermia
• A hypermetabolic state induced by some general anesthetics
(tachycardia, tachypnea, muscle spasms, hyperpyrexia)
• Patients with inherited muscle disease are predisposed
(dystrophinopathies, metabolic, other congenital myopathies)
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