Emery-Dreifuss Syndrome

Overview

Journal J Neurol

Specialty Neurology

Date 1986 Apr 1

PMID 3701378

Citations 3

Authors

R K Petty

P K Thomas

D N Landon

Affiliations

Soon will be listed here.

Abstract

A young adult male is described with muscular dystrophy of probable X-linked recessive inheritance. An onset of muscle weakness in late adolescence was preceded by contractures of the neck and elbows dating back to childhood. The distribution of muscle weakness was proximal in the upper limbs and both proximal and distal in the lower. The mixed pattern of muscle involvement in the legs favours the view that cases of Emery-Dreifuss muscular dystrophy with proximal weakness in both the upper and lower limbs and X-linked scapuloperoneal muscular dystrophy represent the same disorder. A muscle biopsy in the present case showed unique appearances.

Citing Articles

Emery-Dreifuss muscular dystrophy.

Heller S, Shih R, Kalra R, Kang P Muscle Nerve. 2019; 61(4):436-448.

PMID: 31840275 PMC: 7154529. DOI: 10.1002/mus.26782.

[Dominant autosomal humeroperoneal syndrome with early contractures and cardiomyopathy (Emery-Dreifuss syndrome)].

Baur X, Witt T, Pongratz D, Gokel M, Rosenbeiger P, Steinbeck G Klin Wochenschr. 1987; 65(15):738-45.

PMID: 3626437 DOI: 10.1007/BF01736811.

Autosomal dominant Emery-Dreifuss syndrome: evidence of a neurogenic variant of the disease.

Witt T, Garner C, Pongratz D, Baur X Eur Arch Psychiatry Neurol Sci. 1988; 237(4):230-6.

PMID: 3203701 DOI: 10.1007/BF00449912.

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