Ullrich congenital muscular atrophy

(redirected from UCMD)
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Ullrich congenital muscular atrophy

A rare autosomal dominant proximal myopathy (OMIM:254090) of early childhood onset, characterised by joint contractures most often affecting the elbows and ankles.  

Molecular pathology
Caused by defects of:
(1) COL6A1, which encodes the alpha 1 subunit;
(2) COL6A2, which encodes the alpha 2 subunit; and
(2) COL6A3, which encodes the alpha 3 subunit.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
UCMD and BM represent a clinical continuum, while intermediate phenotypes between these two classic presentations are common.
Patients present muscle weakness, proximal contractures coexisting with distal joint hyperlaxity,[22] milder compared to UCMD with ambulation preserved into adulthood.
But there is a clinical trial that will take place which will investigate UCMD.
.......50% ............4 ''We have started up our own charity committee on Facebook called Abbi's Campaign - 1 in a Million, where funds raised will go towards the Muscular Dystrophy Campaign.'' Sarah added: "We've met other UCMD sufferers, but there are only three that we know of in the UK.
Eleven patients with collagen VI gene mutation-related myopathies included six UCMD patients and five BM patients.
There were no significant differences between UCMD and BM patients in the fatty infiltration scores of each thigh muscle, except sartorius ( t = −2.13, P = 0.033).