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Abstract

Although muscular diseases are monogenetic disorders, inherited in an autosomal recessive (AR), dominant or X-linked pattern, the marked variability in genetics and presentations can be identified within the same category of a subtype and among patients even with the same gene involvement. Gulf and Arab populations are characterized by a high rate of consanguineous marriages, which favors the appearance of such group of muscular and neuromuscular diseases in multiple and successive generations. In this presentation, we will discuss the spectrum of genetic muscular diseases in Qatar and identify the particular genetic causes of muscular disorders in our population.

The presentation learning objectives involve:

1- Epidemiology of muscular diseases in Qatar

2- Clinical presentation of muscular diseases in Qatar

3- Managements and outcomes

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/content/papers/10.5339/qproc.2020.NMD.5
2020-09-15
2020-11-27
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http://instance.metastore.ingenta.com/content/papers/10.5339/qproc.2020.NMD.5
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