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Neonatal myotonic dystrophy

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Neonatal myotonic dystrophy may occur in children born to mothers with myotonic dystrophy.

There may be contracture deformity of joints - arthrogryposis - weakness and hypotonia. This may be severe enough to affect respiration and require support.

Up to three quarters of infants severely affected with this condition die in the first year of life. However, if support is given the prognosis for survivors is very good.

Despite folklaw to the contrary, the best way to diagnose this condition is not to shake the mother's hand, elicting a myotonic grasp. Instead, electromyography is most helpful.


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