Unusual Manifestations Due to Involvement of Involuntary Muscle in Dystrophia Myotonica

Kohn, Norman N.; Faires, James S.; Rodman, Theodore

doi:10.1056/nejm196412032712302

Cited by 70 publications

(18 citation statements)

References 27 publications

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“…These authors described the familial occurrence of acute and chronic arthritis in patients with calcification of cartilage in multiple joints. A similar radiological appearance was then observed by McCarty, Kohn, and Faires (1962) in patients with attacks of acute arthritis attributed to the presence of crystalline calcium pyrophosphate within affected joints. It now appears that there is at least considerable overlap between the "chondrocalcinosis" of Zitnian and Sitaj, and the "pseudo-gout" of McCarty, Kohn, and Faires.…”

supporting

confidence: 81%

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Significance of Radiological Calcification of Joint Cartilage

et al. 1966

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supporting

confidence: 81%

“…Synovial Fluid Examination.-The general properties of the fluids examined were similar to those described by McCarty, Kohn, and Faires (1962). Fluids from acutely inflamed joints were opaque, with a high cell content and low viscosity.…”

Section: Resultssupporting

confidence: 54%

Significance of Radiological Calcification of Joint Cartilage

et al. 1966

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“…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. Some other similar cases have subsequently been described (Bashour et al, 1955;Kilburn et al, 1959a;Cannon, 1962;Gillam et al, 1964;Kohn et al, 1964;Lee and Hughes, 1964).…”

mentioning

confidence: 73%

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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“…Although weakness, myotonia, and a progressive dystrophy of striated muscle are principle manifestations of the disease (1), abnormalities occur in other tissues: malformation of cranial bones (2), extrathyroid hypometabolism (1)(2)(3)(4)(5), alopecia (1), testicular atrophy (2,4,5), and abnormal glucose tolerance with enhanced insulin levels (2,4,6). Abnormal electrocardiograms frequently associated with cardiac symptoms (7,8), disturbances of smooth-muscle motility (9)(10)(11)(12), subcapsular irridescent cataracts (1), and hypercatabolism of IgG (13) have been reported. Physiological investigations have suggested a membrane abnormality as the underlying metabolic defect.…”

mentioning

confidence: 99%

Protein Kinase Activity in Erythrocyte Ghosts of Patients with Myotonic Muscular Dystrophy

Roses

Appel

1973

Proc. Natl. Acad. Sci. U.S.A.

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Myotonic muscular dystrophy is a disorder of humans that involves many organ systems. Physiological studies have suggested that the fundamental defect is of membrane origin. Heretofore, no reproducible metabolic abnormalities have been demonstrated. In the present studies we used erythrocyte ghosts as a convenient source of purified membranes that do not possess changes of denervation, dystrophy, and fibrosis that might complicate the interpretation of muscle membrane changes. Our experiments demonstrated a significant difference in the phosphorylation of erythrocyte ghost protein by [y_32PJATP, with endogenous protein kinase of erythrocyte membrane as the enzyme source. After ghosts were kept for 1 week at -20°, phosphorylation of membrane protein in eight controls was twice as high as endogenous protein kinase activity measured in fresh preparations. No stimulation was seen in preparations from seven myotonic dystrophy patients from three different families. This reproducible difference in normal and myotonic membranes may represent an important new approach to studies of this debilitating inborn error of metabolism.

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Unusual Manifestations Due to Involvement of Involuntary Muscle in Dystrophia Myotonica

Cited by 70 publications

References 27 publications

Significance of Radiological Calcification of Joint Cartilage

Significance of Radiological Calcification of Joint Cartilage

Alveolar hypoventilation and hyperosmnia in myotonic dystrophy.

Protein Kinase Activity in Erythrocyte Ghosts of Patients with Myotonic Muscular Dystrophy

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