Ullrich congenital muscular dystrophy
| Ullrich congenital muscular dystrophy | |
|---|---|
| Other names | Scleroatonic muscular dystrophy |
| Autosomal recessive pattern is the inheritance manner of this condition | |
| Symptoms | Muscle weakness |
| Types | UCMD1, UCMD2 |
| Causes | Mutations in the COL6A1, COL6A2, COL6A3, and COL12A1 gene |
| Diagnostic method | Physical exam, Medical history |
| Medication | Physical therapy, Surgery(scoliosis) |
Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2.
UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen.
UCMD is commonly associated with contractures, joint laxity, muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome.