Ullrich congenital muscular dystrophy

Term ID

DOID:0050558

Synonyms

• ULLRICH DISEASE
• Ullrich scleroatonic muscular dystrophy

Definition

A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy

References

• GARD:4769
• ORDO:75840

Ontology

Human Disease   ( DOID:0050558 )