Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy
Classification and external resources
OMIM	254090
DiseasesDB	33679

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

collagen disease (Bethlem myopathy) · PTP disease (X-linked MTM) · adaptor protein disease (BIN1-linked centronuclear myopathy) · cytoskeleton disease (Nemaline myopathy, Zaspopathy)

Myotonia	Myotonia congenita · Thomsen disease · Neuromyotonia/Isaacs syndrome · Paramyotonia congenita

Periodic paralysis	Hypokalemic (Thyrotoxic) · Hyperkalemic

Other	Central core disease

MELAS · MERRF · KSS · PEO

Other

anat (h/n, u, t/d, a/p, l)/phys/devp/hist

noco(m, s, c)/cong(d)/tumr, sysi/epon, injr

proc, drug (M1A/3)

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	Junctional epidermolysis bullosa · Laryngoonychocutaneous syndrome

Other	Congenital stromal corneal dystrophy · Raine syndrome · Urbach–Wiethe disease · TECTA (DFNA8/12, DFNB21)

see also fibrous proteins B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk