Autosomal dominant Emery-Dreifuss muscular dystrophy Summary. This disease is described under Emery-Dreifuss muscular dystrophy. Emery-Dreifuss muscular dystrophy, characterized by the clinical triad of joint contractures, muscle weakness and cardiac involvement. A distrofia muscular de Emery Dreifus tipo 1 (DMED1) é uma doença familiar, com transmissão recessiva ligada ao X, resultante da mutação de uma proteína.

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Features common to both groups included involvement of the neck or paravertebral muscles and an age-dependent development of cardiomyopathy, most after age 25 years. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

Myopathy, X-linked, with postural muscle atrophy. Registry of left atrial appendage closure and initial Those with cardiac involvement had arrhythmias resulting in ventricular dysfunction.

He was 1 of 2 affected, and there was no family history of consanguinity or other diseases, nor any known instances of sudden death. Specialised Social Services Eurordis directory. Becker suggested that the Hauptmann-Thannhauser eponym be attached to autosomal dominant muscular dystrophy with early emerg and cardiomyopathy because Hauptmann and Thannhauser2 German immigrants working in Boston, reported the disorder in a family of French Canadian descent in which 9 persons in 3 generations were affected by a form of muscular dystrophy ‘not heretofore described in the literature.

This disease is described under Emery-Dreifuss muscular dystrophy. He was subsequently referred to our hospital for a neuromuscular disease consultation. Emery-Dreifuss muscular dystrophy 1, X-linked. Cardiac involvement preceded neuromuscular musculwr in all affected patients, whereas in previously reported cases with both cardiac and neuromuscular involvement, the neuromuscular disorders had preceded cardiac abnormalities.

Muscular shortening and dystrophy: Further cardiac study, including Holter ECG monitoring, showed sinus rhythm, with minimum, mean and maximum heart rates of 32, 54 and 90 bpm, respectively, and periods of first-degree AVB.


Contractures usually precede the development of muscle atrophy 7 but rarely lead to complete loss of mobility. While female carriers do not develop musculoskeletal symptoms, they can have conduction disorders, and there have been some reports of sudden death. The limb girdle muscular dystrophy rarely has similar presentation 4,5,7. No type grouping or angular fibers were seen. More than 70 mutations are currently known, most drreifuss which result in the complete loss of emerin, although in some cases reduced production is observed.

There were no fasciculations.

Emery–Dreifuss muscular dystrophy

SNIP measures contextual citation impact by wighting citations based on the df number of citations in a subject field. Muscle Nerve, 27pp. Slight CK elevation, present in both our patients, strengthens the suspicion of muscular disease.

The patient was seen for the first time in our hospital when he was 26, presenting cardiac arrhythmia and episodes of sight darkening.

Orphanet: Distrofia muscular de Emery Dreifuss, autossómica dominante EDMD2

Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. C ] – Onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement [UMLS: These changes were indicative of a neurogenic disorder. Other possible forms of management and treatment are the following: The patient’s father and 4 cousins all had cardiac disease without muscle weakness ranging from nonspecific ‘heart attacks’ to dilated cardiomyopathy and arrhythmia.

Emery Dreifuss muscular dystrophy”. The results emwry consistent with germline mosaicism or a recurrent de novo event.

Clinical manifestations usually occur in adolescence and include contractures, muscle atrophy and weakness, and cardiac conduction disturbances. They are the same type as the ones seen in arrhythmogenic ventricular dysplasia of xreifuss right ventricle The autopsy findings are here described and correlated to the clinical features in an attempt to better understand the ambiguous findings concerning the process etiology.

The motor nerve conduction velocities and sensory latencies were normal. The condition was apparently not progressive. OMIM is intended for use primarily by physicians and other deifuss concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.


Bilateral motor deficit of the quadriceps deteriorated progressively, without involvement of other muscles. The authors noted some unique features in this family, including early myscular at onset, rapid progression, early muscle contractures, and a high incidence of severe cardiomyopathy.

By using this site, you agree to the Terms of Use and Privacy Policy. The Portuguese Journal of Cardiology, distrofiq official journal of the Portuguese Society of Cardiology, was founded in with the aim of keeping Portuguese cardiologists informed through the publication of scientific articles on areas such as arrhythmology and electrophysiology, cardiovascular surgery, intensive care, coronary artery disease, cardiovascular imaging, hypertension, heart failure and cardiovascular prevention.

Saraiva, F, et al. Fiber splitting and scattered fibers with basophilic ddeifuss and large pale nuclei with prominent nucleoli were seen.

He had elevated CK, and cardiac monitoring showed severe conduction tissue disease, with significant sinus pauses, chronotropic incompetence and periods of AV dreofuss during exercise. Routine laboratory studies were normal except serum creatine kinase activity that was UI normal 1 – Emery-Dreifuss muscular dystrophy with autossomal dominant transmission.

The disease course was generally slow, but there were 2 broad phenotypes: Continued careful cardiologic follow-up of family is required so as to detect carriers, and as a preventive measure 6.

Emery-Dreifuss Muscular Dystrophy

Electroneuromyogram ENMG and muscle biopsy were carried out concurrently. X-linked recessive inheritance, humeroperoneal muscle weakness, early involvement of lower limbs distal muscles, slow evolution and cardiac abnormalities. According to Galassi et al. The patient’s brother had the same problem buthe was not seen because dreifus denied to be submitted to exams.