Ullrich congenital muscular dystrophy
Medical condition / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about Ullrich's myopathy?
Summarize this article for a 10 year old
SHOW ALL QUESTIONS
Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2.[4]
Quick Facts Other names, Symptoms ...
Ullrich congenital muscular dystrophy | |
---|---|
Other names | Scleroatonic muscular dystrophy[1] |
Autosomal recessive pattern is the inheritance manner of this condition | |
Symptoms | Muscle weakness[2] |
Types | UCMD1, UCMD2 |
Causes | Mutations in the COL6A1, COL6A2, COL6A3, and COL12A1 gene[3] |
Diagnostic method | Physical exam, Medical history[3] |
Medication | Physical therapy, Surgery(scoliosis)[3] |
Close
UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen.[4]
UCMD is commonly associated with contractures, joint laxity, muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD.[5][6] It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome.[7]