Sphincter Involvement in Ocular Myopathy

Teasdall, Robert D.; Schuster, Marvin M.; Walsh, Frank B.

doi:10.1001/archneur.1964.00460170016002

Cited by 15 publications

(1 citation statement)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is more likely to be a form of descending ocular myopathy or ophthalmoplegia-plus, in which case mitochondrial anomalies in a biopsy specimen of muscle are obligatory. Sporadic cases occurring later in life have a clinical picture and course which is in agreement with the diagnosis of oculopharyngeal dystrophy (Teasdall et al 1964, Ellis et al 1966, Levy & Scaff 1974. A completely different hereditary pattern makes the diagnosis of oculopharyngeal dystrophy very doubtful, as in the autosomal recessive cases described by Matsunaga et al (1972) and Fried et al (1975).…”

supporting

confidence: 58%

Oculopharyngeal dystrophy diagnostic problems and possibilities

Bastiaensen

Schulte

1979

Doc Ophthalmol

View full text Add to dashboard Cite

supporting

confidence: 58%

Oculopharyngeal dystrophy diagnostic problems and possibilities

Bastiaensen

Schulte

1979

Doc Ophthalmol

View full text Add to dashboard Cite

Ophthalmoplegia Plus

Drachman¹

1968

Arch Neurol

232

View full text Add to dashboard Cite

CONSIDERABLE interest has been focused on the entity of progressive external ophthalmoplegia (PEO) since the report of Kiloh and Nevin in 1951.1 These authors were primarily concerned with the pathogenesis of the ocular muscle weakness, concluding that it was virtually always the result of a myopathic process. They regarded PEO as a distinctive and relatively isolated disorder, although occasionally associated with mild myopathy elsewhere; they considered its association with other neurodegenerative findings to be "extremely rare," citing only the cases of Marburg2 and of Walsh.3 More recently, however, PEO has been linked with a variety of neurologic abnormalities in increasing numbers of reports. In addition to myopathic involvement of limb musculature, other neurologic symptoms including pharyngeal weakness, peripheral neuropathy, cerebellar ataxia, spasticity, deafness, optic atrophy, and dementia have been observed in conjunction with PEO. Other organ systems also involved have included the heart, endocrine glands, skin, bony skeleton, and eye.Based on the various combinations of clin¬ ical signs and laboratory findings, a number of "new syndromes" have been described in which PEO occurs as a constant or variable feature. New reports of older, well-known syndromes have also shown that PEO may occur in association with disorders long re¬ garded as cerebellar or neuropathic degener¬ ative conditions. Because of the overlap of clinical and laboratory findings among these conditions, the separation and classification of degenerative disorders in which PEO oc¬ curs has become deeply entangled; the con¬ ditions reported as new syndromes by one author are "variants" or "formes frustes" of a different syndrome to another author. Add¬ ing to the confusion has been an underlying concern for the purity of distinction between myopathie and neurodegenerative disorders.We have recently studied four unrelated patients in whom PEO occurred in combina¬ tion with extensive involvement of the nerv¬ ous system and other organs. Certain of the clinical and laboratory findings were closely similar; others differed. The concordant and discordant features provided an illuminating example of the difficulty of basing a system of nosology primarily on the semiology (symptoms and signs) of these degenerative conditions.The purpose of this report is to note the findings in these cases of "ophthalmoplegia plus"; to call attention to the range of ab¬ normalities that have been reported in asso¬ ciation with PEO; and, in light of these findings, to review and evaluate the classifi¬ cation of related degenerative disorders. Report of CasesCase 1.-History.-A 16-year-old girl was seen because of ocular motor weakness and un¬ steadiness of gait. She had been entirely well until age 8, when she was noted to have droop¬ ing of the eyelids and limitation of gaze in all directions. Within two years she developed difficulty in swallowing, faintness of the voice, and a hearing loss. In school she was consid¬ ered below average intellectually. At age...

show abstract

Experimental Denervation of Ocular Muscles

Drachman¹

1969

Arch Neurol

View full text Add to dashboard Cite

PROGRESSIVE external ophthalmoplegia (PEO) is a slowly advancing, often hereditary disorder in which increasing weakness of the extraocular muscles (EOMs) often results in severe ptosis of the eyelids and paresis of ocular movements. This condition is of interest not only because of its fairly frequent occurrence among the neuromuscular disorders, and its interesting association with degenerations within the nervous system and elsewhere, but also because it was once considered to be a neurogenic paralysis ("progressive nuclear ophthalmoplegia"1-4), and is now accepted as a primary disorder of muscle ("ocular myopathy"; the Kiloh-Nevin syndrome5-16). The major bases for its acceptance as a myopathic disorder have been the occurrence of "myopathic" changes seen on histologic examination of ocular muscles obtained at biopsy or autopsy, and the occasional occurrence of similar histologic changes in muscles of the limb girdles, along with proximal weakness. Additional, less direct evidence has included the mildness or absence of nerve cell loss in the brain stem ocular motor nuclei (in the few autopsied cases3·8·17-25) and the preservation of axons in nerves within the ocular muscles.Recently several converging lines of evi¬ dence have raised doubts about the basis on which PEO is considered to be invariably myopathie. First, increasing numbers of cases have been reported in which PEO is associated with neuropathy, or both neuro¬ pathy and myopathy, rather than myopathy alone2638; the "identificationby association" as a myopathy is no longer as compelling in these cases. Second, the validity of the histo¬ logie criteria used to differentiate chronic neurogenic atrophy of muscle from myo¬ pathie change has been called into ques¬ tion. Drachman et al39 have demonstrated that biopsies from patients with long-stand¬ ing poliomyelitis may show either a mixture of neuropathic and myopathie changes or even myopathie changes alone. In addition, a number of degenerative disorders long known to have major anterior horn cell and peripheral nerve pathology have lately been reported to show changes considered myo¬ pathie on muscle biopsy.40"44 These recent observations first suggested the need to reopen the question of the pathogenesis of PEO. Other factors have con-

show abstract

Sphincter Involvement in Ocular Myopathy

Cited by 15 publications

References 4 publications

Oculopharyngeal dystrophy diagnostic problems and possibilities

Oculopharyngeal dystrophy diagnostic problems and possibilities

Ophthalmoplegia Plus

Experimental Denervation of Ocular Muscles

Contact Info

Product

Resources

About