Oculopharyngeal muscular dystrophy

Julien, Jean-Philippe; Vital, C; Vallat, Jean Michel; Vallat, M; Blanc, M.

doi:10.1016/0022-510x(74)90067-7

Cited by 43 publications

(2 citation statements)

References 6 publications

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“…Ocular muscular dystrophy is an autosomal dominant trait and the symptoms are limited to extraocular muscles. In rare cases, weakness and atrophy of the distal muscles of the limbs become apparent [Satoyoshi et al, 19651. Oculopharyngeal muscular dystrophy (OPMD) resembles OGIMD in several ways: there is digestive involvement [Victor et al, 1962;Barbeau, 1966;Roberts and Bamforth, 1968;Julien et al, 1974;Schmitt and Krause, 1981;Little and Perl, 19821, distal limb weakness [Fukuhara et al, 19821, and a neurogenic component with spongiform degeneration of the spinal cord [Schmitt and Krause, 19811. However, the distinctive manifestations are numerous and outweigh the traits common to the two conditions.…”

Section: Discussionmentioning

confidence: 99%

Oculogastrointestinal muscular dystrophy

Ionâşescu

1983

Am. J. Med. Genet.

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The author reports on four patients (one male, three females) from the same kindred with a newly recognized autosomal recessive condition involving striated and smooth muscle that has been designated oculogastrointestinal muscular dystrophy. It is characterized by ptosis, ophthalmoplegia, and progressive intestinal pseudo-obstruction leading to malnutrition and death before 30 y. Autopsy studies in two cases showed a severe primary myopathy of smooth muscles of the stomach and intestine with intact myenteric plexus and vagus nerves. The proposita notably had myopathic changes of striated muscles but also involvement of the peripheral nerves and central nervous system characterized by demyelinating and axonal neuropathy and focal spongiform degeneration of the posterior columns.

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Section: Discussionmentioning

confidence: 99%

Oculogastrointestinal muscular dystrophy

Ionâşescu

1983

Am. J. Med. Genet.

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“…Auller den okulãren und pharyngealen Muskein kön-nen im weiteren Verlauf auch Gesichts-, Schläfen-und Nackenmuskeln (9,13,17,24), die Gliedmagenniuskulatur (6,9,17,24) sowie der Herzmuskel (9) beteiligt scm. Veränderungen an den Mitochondrien wurden in einigen Fallen beschrieben (11,15,19). Pleiokoniale oder megakoniale Mitochondrien kommen jedoch auch bei der Myasthenie vor (12), sogar auch als senile Muskelalterationen (18).…”

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Familiäres Vorkommen von Myasthenia gravis und okulo-pharyngealer Myopathie

Szobor¹

1985

Akt Neurol

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Familial Fingerprint Body Myopathy

Fardeau¹,

Tomé²,

Derambure³

1976

Archives of Neurology

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Muscle biopsy specimens from two half brothers with a congenital benign muscle disorder and from their mother, clinically unaffected, were studied by histochemistry and electron microscopy. In the children's biopsy specimens, the ultrastructural examination showed numerous fingerprint bodies located at the periphery of the muscle fibers. The histochemical pattern was different in these two specimens. In the mother's biopsy specimen, while fingerprint bodies were not found, the muscle fibers showed slight but definite changes. Even if the fingerprint bodies by themselves are not specific for a particular muscle disease, their occurrence in two half brothers is a valid argument in favor of the individalization of the fingerprint body myopathy, which has been previously described.

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Oculopharyngeal muscular dystrophy

Cited by 43 publications

References 6 publications

Oculogastrointestinal muscular dystrophy

Oculogastrointestinal muscular dystrophy

Familiäres Vorkommen von Myasthenia gravis und okulo-pharyngealer Myopathie

Familial Fingerprint Body Myopathy

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