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).
 ...
PMID:Myotonic muscular dystrophy associated with ritodrine tocolysis. 396 11

myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, muscle weakness and myotonia, which can affect both mother and child. Complications may arise during pregnancy, delivery, including anaesthetic problems, and in the neonatal period. During pregnancy hydramnion can be a first sign of the disease leading to premature labor and also muscle weakness and myotonia can aggravate complicating the course of delivery. The affected neonate may display severe hypotonia, facial diplegia and respiratory distress. The clinical diagnosis can be confirmed by direct DNA analysis in serum and in chorionvillus biopsy material. In this case report two sisters with myotonic dystrophy are described, their pregnancies, deliveries and the outcome of their affected babies.
 ...
PMID:Myotonic dystrophy in pregnancy: a report of two cases within one family. 922 95