Dystrophia Myotonica (Myotonia Atrophica)

Adie, W. J.; Greenfield, J. G.

doi:10.1093/brain/46.1.73

Cited by 96 publications

(22 citation statements)

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“…The presence of acrocyanosis in a case of myotonic dystrophy was reported by Adie and Greenfield in 1923. Twelve years later at the necropsy of another case, Londres (1935) observed microscopic alterations in the diaphragm similar to those found in the skeletal muscles. However, the first detailed description of the clinical picture of alveolar hypoventilation in a patient with hypofunction and myotonia of the respiratory muscles was provided by Benaim and Worster-Drought in 1954.…”

mentioning

confidence: 77%

Alveolar hypoventilation and hyperosmnia in myotonic dystrophy.

Coccagna¹,

Mantovani²,

Parchi³

et al. 1975

Journal of Neurology, Neurosurgery & Psychiatry

101

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SYNOPSIS A case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia is presented. Radiological studies and EMG examination of the intercostal muscles demonstrated that the respiratory muscles were affected by the disease, while polygraphic recordings showed that the alveolar hypoventilation and pulmonary hypertension worsened during sleep. The hypersomnia preceded the appearance of clinical signs of the muscular disease by many years and persisted even after treatment when the blood gas analysis values were greatly improved. During both diurnal and nocturnal sleep, the patient frequently fell asleep directly into a REM stage. The possibility is discussed that, concomitant with the respiratory musculature involvement, there is an alteration in the central nervous system in myotonic dystrophy which is at least partially responsible for both the alveolar hypoventilation and the hypersomnia.

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mentioning

confidence: 77%

Alveolar hypoventilation and hyperosmnia in myotonic dystrophy.

Coccagna¹,

Mantovani²,

Parchi³

et al. 1975

Journal of Neurology, Neurosurgery & Psychiatry

101

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“…Anticipation was invoked as a way to explain findings of decreasing age of onset and increasing severity of disease in dementia praecox (Rüdin 1916) Huntington's disease (Entres 1921), myotonic dystrophy (Adie and Greenfield 1923), Leber's hereditary optic neuropathy (Kwakami 1926), and diabetes (Sherrill 1921), but it was by no means universally accepted, particularly among those who took a statistical rather than a clinical approach to the study of human heredity.…”

Section: Early Strugglesmentioning

confidence: 99%

Anticipation in hereditary disease: the history of a biomedical concept

Friedman

2011

Hum Genet

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In the mid-nineteenth century, it was commonly believed that hereditary disease struck at the same time in succeeding generations, except for those cases in which it appeared at an earlier age. This exception to the rule was the precursor for the concept of anticipation in hereditary disease, a pattern of inheritance where a hereditary illness strikes earlier and often more severely in succeeding generations. Anticipation underwent cycles of acceptance and rejection over the course of the twentieth century and the ways in which this concept was received reveal complex interactions between science, medicine, and society.

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“…Although many authors make mention of lacrimation in DM patients, hyperfunction of the lacrimal gland is certainly not assumed by all. ADIE • GREENFIELD (1923), THOMASEN (1948) J. JUNGE and DE JONG (1955) make no mention of increased lacrimation. KLEIN (1958) saw only one patient with intermittent epiphora.…”

Section: C) Eversion Of the Puncta Lacrimaliamentioning

confidence: 99%

Ocular changes in dystrophia myotonica, paramyotonia and myotonia congenita

Junge¹

1966

Doc Ophthalmol

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Dystrophia Myotonica (Myotonia Atrophica)

Cited by 96 publications

References 0 publications

Alveolar hypoventilation and hyperosmnia in myotonic dystrophy.

Alveolar hypoventilation and hyperosmnia in myotonic dystrophy.

Anticipation in hereditary disease: the history of a biomedical concept

Ocular changes in dystrophia myotonica, paramyotonia and myotonia congenita

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