(1/4) Collagen VI CMD
Gene's..... COL6A1, COL6A2, COL6A3.
Progressive contractures, rigid spine, distal joint laxity, respiratory function decline,keloid scar, normal-moderate CK elevation.
Gene's..... COL6A1, COL6A2, COL6A3.
Progressive contractures, rigid spine, distal joint laxity, respiratory function decline,keloid scar, normal-moderate CK elevation.
(2/4) 1:Ulrich severe Type
AR, At birth, decrease fetal movements, kyphoscoliosis, distal joints hyper-laxity, contracture of proximal joints(hip joints), hyperkeratosis pilaris on the extensor surface of hands. Loose ambulation at 10 yrs
AR, At birth, decrease fetal movements, kyphoscoliosis, distal joints hyper-laxity, contracture of proximal joints(hip joints), hyperkeratosis pilaris on the extensor surface of hands. Loose ambulation at 10 yrs
(3/4) 2:Intermediate
With time Ulrich develope other symptoms like Respiratory involvement, Rigid Spine,Distal hands contractures.loose ambulation at 19 yrs.
With time Ulrich develope other symptoms like Respiratory involvement, Rigid Spine,Distal hands contractures.loose ambulation at 19 yrs.
(4/4) 3:Bethlum less severe
AD, Less signs in childhood,Distal hand long flexors contractures,Progressive other joints contractures,Most patients need BIPAP, Needs walking aids around 40yrs.
AD, Less signs in childhood,Distal hand long flexors contractures,Progressive other joints contractures,Most patients need BIPAP, Needs walking aids around 40yrs.
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