Emery-Dreifuss muscular dystrophy

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Em·er·y-Drei·fuss mus·cu·lar dys·tro·phy

(em'ĕr-ē drī'fŭs), [MIM*310300]
a generally benign type of muscular dystrophy, with onset in childhood or early adulthood. Weakness begins with the pectoral girdle and proximal upper extremity muscles and spreads to the pelvic girdle and distal lower extremity muscles. Contractures of the elbow, flexors, neck flexors, and calf muscles often occur; muscle pseudohypertrophy and mental retardation do not occur. A cardiomyopathy is common. An X-linked inherited disorder, nonallelic to Duchenne muscular dystrophy.
[Alan E. H. Emery, Fritz Dreifuss]

Emery-Dreifuss muscular dystrophy

Scapulohumeral dystrophy Molecular medicine A form of muscular dystrophy characterized by contractions of elbow, Achilles tendon, and postcervical muscles in childhood, with slowly progressive wasting and weakness of humeroperoneal muscles; by adulthood, Pts with EDMD have conduction system disease, usually, heart block. See Dilated cardiomyopathy, Emerin, Lamin A/C.

Em·er·y-Drei·fuss mus·cu·lar dys·tro·phy

(em'ĕr-ē drī'fŭs mŭskyū-lăr distrŏ-fē)
Usually benign type of muscular dystrophy, with onset in childhood or early adulthood. Weakness begins with the pectoral girdle and proximal upper extremity muscles and spreads to the pelvic girdle and distal lower extremity muscles. Contractures of the elbow, flexors, neck flexors, and calf muscles often occur; muscle pseudohypertrophy and mental retardation do not occur. A cardiomyopathy is common.

Emery-Dreifuss muscular dystrophy

(em′ĕ-rē-drī′fŭs)
[Alan E. H. Emery, British geneticist, b. 1928; Fritz Emanuel Dreifuss, German-born Brit. neurologist, 1926–1997]
,

EDMD

One of several rare forms of muscular dystrophy, characterized by muscular degeneration principally in the shoulders, arms, and calves. Cardiac conduction abnormalities resulting in heart block and joint contractures are common complications.
References in periodicals archive ?
MRI examinations were performed on a 3.0T (GE Signa, USA or Philips Achieva, NED) scanner at the level of the thigh in all patients, as previously described.[23] Lower leg muscle MRI was performed in six patients, including one with EDMD, four with LGMD, and one with L-CMD.
1-5 belonged to the EDMD group and their ages range from 4.0 to 29.0 years.
In total, 21 patients (four with EDMD, nine with LGMD1B, and eight with L-CMD) underwent thigh muscle MRI [Figure 1], [Figure 2] and [Table 2], [Table 3].
Unlike EDMD and LGMD, we found infiltration of the vasti muscles in the early-stage L-CMD phenotype to a lesser degree [Figure 1] and [Figure 3].
There were only six patients who underwent lower leg muscle MRI, including one with EDMD, four with LGMD1B, and one with L-CMD.
This result was in accordance with previous reports.[27],[29],[35] In L-CMD, although the muscle MRI scans showed less fatty infiltration in the vasti muscles in the early stage of the disease, the follow-up MRI revealed fatty infiltration in the vasti muscle, while the rectus femoris was relatively spared, indicating the same muscle involvement pattern as that in EDMD or LGMD1B over the course of disease progression.
The following sections offer a brief look at some of the main aspects of the EDMD data model and how it relates to the IDF:
However, the EDMD data model supports a full 3D geometry representation for future use.
The structure of an IDX file is defined by a dozen interrelated XML schemas that comprise the EDMD data model.
IDX files should only be processed by applications that comply with the EDMD data model.
Mentor's ECAD-MCAD Collaborator (EDMD) supports IDX versions 1.2 and 2.0 for the Expedition Enterprise, BoardStation XE and PADS design flows.