Prevalence of Rare Diseases in Consanguineous Marriages: A Case of Ullrich Muscular Dystrophy in a Resource-Limited Setting

Scritto il 13/10/2026
da Kanza Farhan

Clin Case Rep. 2026 Oct 11;14(10):e73658. doi: 10.1002/ccr3.73658. eCollection 2026 Oct.

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.

PMID:42865615 | PMC:PMC13655366 | DOI:10.1002/ccr3.73658