Congenital Myotonic Dystrophy Essay

Congenital Myotonic Dystrophy (CDM) exists only in DM1 and often presents before birth as polyhydramnios (excessive accumulation of amniotic fluid during pregnancy) and reduced fetal movements. It is considered a severe early form of DM1 as CDM children may be born as premature infants. important first symptoms include severe generalized weakness, hypotonia and respiratory involvement. Over half of CDM newborns have a tent-formed upper lip, characteristic of severe facial weakness. Mortality from respiratory complications are frequent and Surviving infants steadily improve in motor function. Although motor milestones are delayed at postnatal stages, Almost all CDM children are able to walk. other abnormal features that occur in high frequency

Overall muscle weakness underlies the core features in classic DM1. Distal muscle weakness hampers dexterity of the hands, making grip myotonia a regular feature. However, myotonia also affects other muscles, such as the tongue or facial muscles. This causes difficulty with talking, chewing, and swallowing, and the ‘hatchet’ appearance on account of drooping eyelids and global facial weakness. Additionally, cardiac abnormalities arise – typically involving arrhythmias and conduction blocks, which contribute significantly to the morbidity and mortality of the disease. Central nervous system involvement covers intellectual deficits, Nocturnal apnoeic episodes and daytime sleepiness, , and specific patterns of psychological dysfunction. neuropsychological changes may be associated to alterations in biomarkers, such as tau protein abnormalities. These changes are often detected through neuroimaging and neuropathology. Furthermore, this multi-system disease may give rise to various gastrointestinal tract complications and endocrine abnormalities. Late-onset patients carry a lower number of repeat mutations and often experience symptoms of less