Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy
Classification and external resources
OMIM	254090
DiseasesDB	33679
GeneReviews	Collagen Type VI-Related Disorders

Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.

It is associated with variants of type VI collagen.^[1] It is commonly associated with muscle weakness.

References

AD	Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most)

AR	Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg

XR	dystrophin Becker's Duchenne Emery–Dreifuss

Other structural

Myotonia	Myotonia congenita Thomsen disease Neuromyotonia/Isaacs syndrome Paramyotonia congenita

Periodic paralysis	Hypokalemic Thyrotoxic Hyperkalemic

Other	Central core disease

Other

Index of muscle

Description	Anatomy head neck arms chest and back diaphragm abdomen genital area legs Muscle tissue Physiology connective tissue

Disease	Myopathy Soft tissue Connective tissue Congenital abdomen muscular dystrophy Neoplasms and cancer Injury Symptoms and signs eponymous

Treatment	Procedures Drugs anti-inflammatory muscle relaxants

Genetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin)

COL1:	Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7

COL2:	Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11)

COL3:	Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome

COL4:	Alport syndrome

COL5:	Ehlers–Danlos syndrome, types 1 & 2

COL6:	Bethlem myopathy Ullrich congenital muscular dystrophy

COL7:	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn

COL8:	Fuchs' dystrophy 1

COL9:	Multiple epiphyseal dysplasia 2, 3, 6

COL10:	Schmid metaphyseal chondrodysplasia

COL11:	Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11)

COL17:	Bullous pemphigoid

Other

see also fibrous proteins

Index of cells

Description	Structure nucleus chromosome genetics Organelles peroxisome cytoskeleton centrosome epithelia cilia mitochondria Membranes proteins cell adhesions Membrane transport ion channels vesicular transport solute carrier ABC transporters ATPase oxidoreduction-driven

Disease	Structural peroxisome cytoskeleton cilia mitochondria nucleus scleroprotein Membrane channelopathy solute carrier ATPase ABC transporters other extracellular ligands cell surface receptors intracellular signalling Vesicular transport Pore-forming toxins