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

↑ GeneReviews/NCBI/NIH/UW entry on Collagen Type VI-Related Disorders

Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)

Neuromuscular-
junction disease

autoimmune
- Myasthenia gravis
- Lambert–Eaton myasthenic syndrome

Myopathy/
congenital myopathy

Muscular dystrophy
(DAPC)

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

Channelopathy

Myotonia	Myotonia congenita Thomsen disease Neuromyotonia/Isaacs syndrome Paramyotonia congenita

Periodic paralysis	Hypokalemic Thyrotoxic Hyperkalemic

Other	Central core disease

Mitochondrial myopathy

Other

Inflammatory myopathy

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

Collagen disease

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

Laminin

Other

see also fibrous proteins

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