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A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 1:07 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about LAMA5-related multisystemic syndrome
AI-curated news mentioning LAMA5-related multisystemic syndrome
Updated Jul 26, 2026
A new study explores the repurposing of Sapropterin (Kuvan) for treating ACTA2-related multisystemic smooth muscle dysfunction syndrome. This first-in-human therapeutic report provides insights into the drug's potential mechanisms and applications.