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Abstract

Congenital muscular dystrophies and neuromuscular disorders are characterized by their heterogeneity in clinical presentations. A growing list of underlying causative genes, and different patterns of inheritance, mainly autosomal recessive, lead to the requirement of complex care, particularly in the congenital group.

Significant progress has been made in the diagnostic procedures, tools for prevention, guidelines of health care as well as in therapeutic modalities curing congenital forms of muscular dystrophies. This discussion is aimed at achieving better understanding of the community priorities with regard to the so-called «rare genetic diseases». It further contributes towards forward steps in care and cure of Neurogenetic disorders as part of Qatar National Vision plans for 2030.

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/content/papers/10.5339/qproc.2020.NMD.3
2020-09-15
2020-09-23
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http://instance.metastore.ingenta.com/content/papers/10.5339/qproc.2020.NMD.3
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