Hypotonia bulbi und Gonadotropine bei myotonischer Dystrophie

Küchle, Michael; Naumann, G. O. H.; Völcker, H. E.; Sears, M L

doi:10.1055/s-2008-1050274

Cited by 9 publications

(3 citation statements)

References 5 publications

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“…Behrens et al [2] showed that apamin-sensitive K + channel disorder leads to the occurrence of myotonia in DM. Red blood cells, monocytes, fibroblasts, and lymphocytes have been cultured in vitro to clarify the mechanisms of disregulated signal transduction [13,14,20,22,23,[29][30][31].…”

Section: Introductionmentioning

confidence: 99%

Abnormal calcium metabolism in myotonic dystrophy as shown by the Ellsworth-Howard test and its relation to CTG triplet repeat length

Kinoshita

Komori

Ohtake

et al. 1997

Journal of Neurology

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Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by peculiar clinical features. Its molecular basis is the unstable expansion of a CTG triplet repeat in the gene encoding myotonin protein kinase (Mt-PK), the nucleotide sequence of which has extensive homology to the cyclic AMP (cAMP)-dependent protein kinase gene. Extensive efforts have been made to clarify the signal transduction pathway in which the responsible gene operates, but confirming evidence has yet to be obtained. Because some symptoms in DM are similar to those in hypoparathyroidism, we divided 24 DM patients into two groups on the basis of their serum calcium levels; Group 1, those with normocalcemia (11 patients), and group 2, those with hypocalcemia (13 patients). The highly sensitive parathyroid hormone (HS-PTH) plasma levels in group 1 were within normal limits, whereas those in group 2 were abnormally high. Laboratory findings for the group 2 patients resembled those for pseudohypoparathyroidism (PHP), whereas those for group 1 patients were normal. The Ellsworth-Howard (EH) test was used to determine which type of PHP the group 2 patients belonged to. Both the phosphaturic (delta P) and urinary cAMP (UcAMP) responses were estimated. The delta P responses in group 2 were significantly lower than those in group 1, but their UcAMP responses did not differ. This is evidence that group 2 patients had PHP type II, whereas group 1 patients were normal. We also investigated whether the disease severity differed between the groups. Cataracts, ectopic calcifications, and ossifications, which are associated with PHP, were more frequent in group 2. In addition, the mean IQ in that group was significantly lower. Clinically, the group 2 signs agreed well with those of PHP, whereas for group 1 there was only a slight similarity. These results are additional evidence that the patients in group 2 have abnormal calcium metabolism, the abnormality being in the postadenylate cyclase-cAMP pathway in the renal tubular cells. The degree of (CTG)n expansion, the so-called expanded DNA fragment (EF) size, was determined by standard Southern blot analysis. The allelic EF sizes in both groups were greater than in the healthy controls. Moreover, those in group 2 were significantly longer than those in group 1. We therefore investigated whether EF size is correlated with the serum calcium and plasma PTH levels, the delta P responses in the EH test, and IQ. All these items were significantly correlated with EF size. Our findings show that the expanded DNA fragment size in DM is correlated with the degree of abnormal calcium metabolism.

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Section: Introductionmentioning

confidence: 99%

Abnormal calcium metabolism in myotonic dystrophy as shown by the Ellsworth-Howard test and its relation to CTG triplet repeat length

Kinoshita

Komori

Ohtake

et al. 1997

Journal of Neurology

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“…Die Katarakt und die Ptosis gehçren zu den häufigsten Manifestationen, die auch bei unserer Patientin diagnostiziert wurden. Seltener treten eine externe Ophthalmoplegie, eine Licht-Nah-Dissoziation der Pupillen, eine Retinopathie mit Pigmentveränderungen der Netzhaut sowie eine Hypotonia bulbi auf [3,5,18,20,23,25,29]. Bei unserer Patientin beobachteten wir ebenfalls relativ niedrige Augeninnendruckwerte bei zwei nachfolgenden Messungen.…”

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“…andere okuläre Korrelate gefunden [13]. Meist sind es die Linsentrübungen, welche die Patienten den Augenarzt aufsuchen lassen [23]. Eine sternfçrmige, hintere subkapsuläre Katarakt stellt oft eine differenzialdiagnostische Herausforderung dar, wenn sie mit multisystemischen Assoziationen, vor allem Muskelschwäche und -atrophien auftritt [3].…”

Section: Zusammenfassung !unclassified

Myotone Dystrophie Curschmann-Steinert

Papageorgiou

Bock²,

Schiefer³

2007

Klin Monatsbl Augenheilkd

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The combination of a myotonic muscle disorder with ophthalmological, and probably cardiac, abdominal and pulmonary symptoms, especially respiratory insufficiency and sleep apnoea should lead to the suspicion of a myotonic dystrophy. Due to the high incidence of ocular manifestations, especially of the typical myotonic cataract, an ophthalmological investigation is essential for a straightforward diagnostic procedure.

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