Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient thought to be normal was admitted with premature labor at 29+ weeks' gestation. Treatment with the beta-mimetic ritodrine hydrochloride appeared to provoke symptoms of myotonic muscular dystrophy. Neurological history and examination confirmed the presence of previously unsuspected myotonic dystrophy in the patient, her father, and paternal grandfather. Discontinuation of the drug led to improvement in myotonia symptoms but worsening premature labor. Magnesium sulfate did not provoke the same symptoms but was unsuccessful in controlling premature contractions. Long-term management with bed rest, phenytoin, and isoxsuprine hydrochloride resulted in term delivery. Subsequently, maternal symptoms of myotonia disappeared. Congenital myotonia was suspected in the fetus because of the ultrasonic demonstration of polyhydramnios and reduced fetal movements. This was confirmed at delivery. The mechanism by which ritodrine unmasked the myotonia is unclear but may be related to changes in the cell membrane (chloride conductance, the sodium-potassium pump, or membrane polarization).
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PMID:Myotonic muscular dystrophy associated with ritodrine tocolysis. 396 11