Congenital muscular dystrophy- a case report
Journal: University Journal of Medicine and Medical Specialities (Vol.4, No. 3)Publication Date: 2018-05-30
Authors : HAVIN RAJA;
Page : 87-88
Keywords : CMD; musce eye brain disease; apha 2 merosin; genetic counselling; antenatal diagnosis;
Abstract
CMD is a heterogenous group of muscle disorder. It is very uncommon. It may run in the family also. Other than mucle involvement, it involves the eye, brain also.The findings may be confused with other muscuar disorder. It has a poor prognosis with out any specific treatment.It can be confirmed by muscle biopsy and neuroimaging. It can be prevented by genetic counsselling and antenatal screening.
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Last modified: 2018-06-01 18:33:48