Congenital myotonic dystrophy - Treatment

   

Congenital muscular dystrophy is a rare form of the disorder occurring almost exclusively in infants of mothers with the adult form of the disease.


Congenital myotonic dystrophy

Symptoms and signs of Congenital myotonic dystrophy

At birth, infants can show symptoms of the disease, including

  • severe weakness,
  • difficulty in sucking and swallowing, and
  • impaired breathing.
  • Delayed motor development and mental retardation are common features of congenital myotonic dystrophy.

Treatment of Congenital myotonic dystrophy

Since it is now clear that myotonic dystrophy type I is caused by a toxic mRNA, what are the therapeutic approaches available? While certain features of the disease phenotype such as the myotonia, arrhythmias and daytime drowsiness are treated today with drugs, surgery for other features such as cataracts and ptosis has been successful (Harper, 2001).

Nonetheless, treatment of symptoms is only provisional since the disease is of neurodegenerative nature and worsens with time. A successful RNA-based gene therapy may be the one of the most effective ways at this time to attenuate symptoms of the disease.

Not all patients need to be followed by a specialist clinic but all should be given full information about the condition and its consequences, including genetic aspects, and should have a clear plan for when medical help is needed.

Specialist advice should always be sought in relation to surgery and anaesthesia, pregnancy or serious illness. A wide range of disability aids exist. It is important that these are chosen with expert assistance.








 

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