The disease could be diagnosed based on a clinical examination, which identifies signs and symptoms generally associated with the people who have the condition. Additional laboratory tests may be recommended. Creatine kinase (CK) blood test results will generally be normal or only slightly elevated. Skin biopsy, MRI of the muscles, electromyography (EMG) are the main testing methods of the disease. The diagnosis can be confirmed with genetic testing of the COL6A1, COL6A2, and COL6A3 genes. Phenotypes of overlap between Ullrich congenital muscular dystrophy (UCMD) and<unk>  can be assumed. In the differential diagnosis of UCDM, even in patients without finger contractures,<unk>  could be considered.
Bethlem myopathy
Brody myopathy
Nemaline myopathy
Muscular dystrophy
Centronuclear myopathy
Hereditary inclusion body myopathy
Limb–girdle muscular dystrophy
Duchenne muscular dystrophy