Centronuclear Myopathy With Type I Fiber Atrophy and "Myotubes"

Bethlem, J.; Wijngaarden, G.K. van; Mumenthaler, M; Meijer, A. E. F. H.

doi:10.1001/archneur.1970.00480250074010

Cited by 26 publications

(6 citation statements)

References 8 publications

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“…Long-standing ocular ptosis and high-arched palate, frequent characteristic signs, may emphasize the 'congenital' nature of this myopathy and may justify the classifi cation of centronuclear myopathy, among the 'congenital' myopathies, even when first ap parent later in life. But such diagnostically helpful hints may be absent in older patients [Vital et al, 1970;Harriman and Ilaleem, 1972;Bethlem et al, 1970] (our patient 1). Women tend to prevail among the later af fected patients [Vital et al, 1970: Harriman andHaleem, 1972], Clinical progression might be mild or ab sent, compatible with lack of aggravation of pathological features in skeletal muscle in our patients.…”

Section: Discussionmentioning

confidence: 87%

Centronuclear Myopathy with Special Consideration of the Adult Form

Goebel¹,

Meinck²,

Reinecke³

et al. 1984

Eur Neurol

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We report clinical, electrophysiological, enzyme histochemical and ultrastructural findings in 4 patients afflicted with centronuclear myopathy of adulthood whose disorder emphasizes the broad spectrum of this congenital myopathy including clear ocular ptosis in only one and facio-scapulo-peroneal syndrome in another patient. The morphological criteria for classification are central nuclei and the enzyme histochemical findings in muscle biopsies which did not show any significant progression over many years, more severe involvement of distal muscles in 2 patients and conspicuous presence of intrafascicular fat cells. 1 patient had associated minicores in a familial setting. Although electromyographic data comprised a mixed myopathic-neurogenic pattern, the morphological features in muscle biopsies did not further prove a neurogenic origin of our patients’ neuromuscular disorder.

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Section: Discussionmentioning

confidence: 87%

Centronuclear Myopathy with Special Consideration of the Adult Form

Goebel¹,

Meinck²,

Reinecke³

et al. 1984

Eur Neurol

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“…The majority have been compatible with a myopathy (Bradley et al, 1970). Several have detected fibrillations (Spiro et al, 1966;Engel et al, 1968;Munsat et al, 1969;Bethlem et al, 1969Bethlem et al, , 1970Winjgaarden et al, 1969), but 'myotonic' discharges are mentioned only by Munsat et al (1969). Fibrillation occurring in myopathy is unusual but occasionally found in Duchenne type muscular dystrophy and in polymyositis (Lenman and Ritchie, 1970).…”

Section: Discussionmentioning

confidence: 99%

Myotubular myopathy associated with cataract and electrical myotonia.

Hawkes¹,

Absolon²

1975

Journal of Neurology, Neurosurgery & Psychiatry

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SYNOPSIS A case of myotubular myopathy is described which is unusual because of bilateral cataracts and prominent myotonic-like discharges on the EMG. The significance of these findings is discussed in relation to dystrophia myotonica.Myotubular myopathy is a slowly progressive muscular disorder starting in childhood, affecting both skeletal and extraocular musculature. Spiro et al. (1966) employed the word 'myotubular' because of the resemblance of the myofibrils to fetal myotubules, and suggested that the disorder might be due to arrested maturation of the developing muscle. This suggestion has been disputed (Sher et al., 1967) and the more neutral term of 'centronuclear myopathy' is preferred by them. There are now more than 20 reports of the disorder but none mentions the presence of cataract and very few have discovered myotonic discharges on the EMG. The present case had both cataracts and electrical myotonia which initially raised the question of dystrophia myotonica until the muscle was examined histologically. CASE REPORTThe patient was first seen by us at the age of 29 years, when he was admitted to the Wessex Neurological Centre for assessment of muscular weakness. Hitherto, he had been assumed to suffer from dystrophia myotonica but there were several inconsistent features.At the age of 2 years he was noted to have a contracture of both Achilles tendons and at 4 years displayed torticollis as a result of contracture of the right sternomastoid muscle. When 10 years old he was found to have bilateral ptosis, severe ophthalmoplegia, diffuse muscular weakness, and wasting involving the face, limb girdles, and limbs, but no

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“…It would be unwarranted, however, to regard the affected cells always as normally differentiated type-1 cells; it is always tempting to categorise fibres even when they do not exactly fit the mould. Van Wijngaarden et al and Bethlem et al (1970) refused to assign the small fibres to type 1, as they showed centrally not only a high oxidative enzyme activity but reacted strongly for phosphorylase in the same zone. We also encountered the same strongly reacting central zone and a variable reaction in the peripheral zone, which caused us to regard these fibres as imperfectly differentiated in regard to sarcoplasmic enzyme activity.…”

Section: Table IImentioning

confidence: 99%