Clinical Case Reports
Prevalence of Rare Diseases in Consanguineous Marriages: A Case of Ullrich Muscular Dystrophy in a Resource‐Limited Setting
By Kanza Farhan, Muhammad Burhan Tariq, Amna Farhan and 3 others.
Abstract
ABSTRACT In regions with high consanguinity, rare recessive disorders like Ullrich congenital muscular dystrophy (UCMD) may present at birth with hypotonia and respiratory distress. To enhance quality of life and prevent recurrence in future pregnancies, early recognition, genetic counseling, and care from a multidisciplinary team of specialists are essential.
Keywords
- case report
- consanguinity
- genetic myopathy
- neonatal hypotonia
- Pakistan
- rare disease
- Open access
Source
Published in Clinical Case Reports. The abstract is shown as published and remains the work of its authors; read the full article at the source.
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