Polysaccharide storage myopathy

Thompson, Alan J.; Swash, Michael; Cox, E. L.; Ingram, David A.; Gray, A.; Schwartz, Martin S.

doi:10.1002/mus.880110411

Cited by 23 publications

(9 citation statements)

References 19 publications

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“…In humans, inclusions similar to those described here have been associated with generalized metabolic myopathies 1,2,8,11 and with myopathy due to hypothyroidism. 7 Such inclusions in humans are most commonly associated with carbohydrate metabolic defects.…”

supporting

confidence: 71%

“…[1][2][3][4][5][6][7][8][9]11,12,14,15 Names given to this material include complex polysaccharide, polyglucosan bodies, Lafora bodies, and amylopectin. Depending on the type of disorder, inclusions may be confined to skeletal muscle, 2,6,7,11 involve only skeletal and cardiac muscle, 2,11 or occur within cells of numerous organs. 2,4,9,11 In the central nervous system, Lafora bodies and related corpora amylacea are incidental findings within neurons of aged humans and dogs.…”

mentioning

confidence: 99%

“…13 Similarly, in some cases of generalized polysaccharide storage myopathy in humans, defects of glycolysis or glycogenolysis were not found. 8,11 Testing for hypothyroidism was not performed in either dog, but there was no clinical evidence of thyroid dysfunction. Dog No.…”

mentioning

confidence: 99%

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Complex Polysaccharide Inclusions in Skeletal Muscle Adjacent to Sarcomas in Two Dogs

Valentine

Bildfell²,

Cooper³

et al. 2002

Vet Pathol

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Abstract. Inclusions of periodic acid-Schiff-positive, amylase resistant material were found within skeletal muscle fibers adjacent to an osteosarcoma in the proximal femur of an 8-year-old intact female Cocker Spaniel dog (dog No. 1) and adjacent to a synovial cell sarcoma of the stifle joint in a 7-year-old spayed female Bouvier des Flandres dog (dog No. 2). Inclusions were pale blue-gray with hematoxylin and eosin stain and formed irregular inclusions, replacing up to approximately 80% of the fiber diameter. Inclusions from dog No. 2 were of non-membrane-bound granular to filamentous material that occasionally formed discrete, elongate electrondense masses. The features of these inclusions were similar to those of materials previously described as complex polysaccharide, polyglucosan bodies, amylopectin, and Lafora bodies. Evidence for a generalized metabolic disorder was not found in these two dogs, suggesting that storage of complex polysaccharide can occur as a relatively nonspecific response to metabolic alterations in skeletal muscle in a variety of conditions.

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supporting

confidence: 71%

mentioning

confidence: 99%

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Complex Polysaccharide Inclusions in Skeletal Muscle Adjacent to Sarcomas in Two Dogs

Valentine

Bildfell²,

Cooper³

et al. 2002

Vet Pathol

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“…The syndrome is characterized by marked IAS thickening with outlet obstruction and pain, presenting as an autosomally dominant inherited disorder in which the IAS shows disordered hypertrophy of PASpositive vacuolated fibres. These are thought to resemble polyglucosan inclusion bodies found in other polysaccharide storage diseases in both skeletal [11] and smooth [12] muscle as well as in the gastrointestinal tract of aging dogs [13]. Vacuolar degeneration of the smooth muscle of the gastrointestinal tract is a characteristic feature of more widespread visceral myopathy [14] as well as of chronic intestinal pseudo-obstruction [15], although in each of these disorders there is smooth muscle degeneration rather than hypertrophy and no inclusions in the vacuoles.…”

Section: Discussionmentioning

confidence: 99%

Hereditary internal anal sphincter myopathy: the first Caribbean family

Zbar¹,

Portilla

Martín

et al. 2007

Tech Coloproctol

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Hereditary proctalgia is an extremely rare condition characterized by endosonographic evidence of internal anal sphincter (IAS) thickening and specific ultrastructural changes seen at light and electron microscopy (EM). We report the case of a 54-year-old Caribbean woman with severe proctalgia and IAS thickening, treated with IAS myectomy. Transmission EM showed PAS-positive inclusions and granulofibrillary smooth muscle inclusion bodies. Anal endosonography of 5 family members from 3 generations showed IAS thickening in all cases with reported proctalgia. The condition represents an isolated IAS myopathy which is a probable polysaccharide storage disease variant. This condition may require specific surgical therapy with specimen preservation and ultrastructural examination for optimal characterization and treatment.

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“…In some reported human cases of glycogedpolysaccharide storage myopathies, an enzyme defect was not detected despite extensive biochemical studies (Pellissier eral. 1981;Thompson et al 1988).…”

Section: Discussionmentioning

confidence: 99%

Severe polysaccharide storage myopathy in Belgian and Percheron draught horses

Valentine

Credille

Lavoie

et al. 1997

Equine Veterinary Journal

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Summary A severe myopathy leading to death or euthanasia was identified in 4 Belgian and 4 Percheron draught horses age 2–21 years. Clinical signs ranged from overt weakness and muscle atrophy in 2 horses age 2 and 3 years, to recumbency with inability to rise in 6 horses age 4–21 years. In 5 horses there was mild to severe increases in muscle enzyme levels. Clinical diagnoses included equine motor neuron disease (2 horses), post anaesthetic myopathy (2 horses), exertional myopathy (2 horses), myopathy due to unknown (one horse), and equine protozoal myelitis (one horse). Characteristic histopathology of muscle from affected horses was the presence of excessive complex polysaccharide and/or glycogen, revealed by periodic acid‐Schiff staining in all cases and by electron microscopy in one case. Evaluation of frozen section histochemistry performed on 2 cases indicated that affected fibres were Type 2 glycolytic fibres. Subsarcolemmal and intracytoplasmic vacuoles were most prominent in 3 horses age 2–4 years, and excessive glycogen, with little or no complex polysaccharide, was the primary compound stored in affected muscle in these young horses. Myopathic changes, including fibre size variation, fibre hypertrophy, internal nuclei, and interstitial fat infiltration, were most prominent in 5 horses age 6–21 years, and the accumulation of complex polysaccharide appeared to increase with age. Mild to moderate segmental myofibre necrosis was present in all cases.

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Polysaccharide storage myopathy

Cited by 23 publications

References 19 publications

Complex Polysaccharide Inclusions in Skeletal Muscle Adjacent to Sarcomas in Two Dogs

Complex Polysaccharide Inclusions in Skeletal Muscle Adjacent to Sarcomas in Two Dogs

Hereditary internal anal sphincter myopathy: the first Caribbean family

Severe polysaccharide storage myopathy in Belgian and Percheron draught horses

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