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Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.
Neuropediatrics. 2002 Feb; 33(1):10-4.N

Abstract

OBJECTIVE

The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype.

PATIENTS AND METHODS

Nine patients with a diagnosis of EDMD2 had MRI scanning of their leg muscles. Seven other patients, four with the X-linked form of Emery-Dreifuss muscular dystrophy (EDMD) and three with an Emery-Dreifuss-like phenotype but no detectable mutations in either the emerin or the lamin A/C gene were also scanned as disease controls.

RESULTS

All patients with EDMD2 showed a characteristic involvement of the posterior calf muscles. The medial head of the gastrocnemius was always predominantly involved while the lateral head was relatively spared. This pattern was more obvious in mildly affected patients in whom the other calf muscles were spared or only mildly involved but was also recognisable in the patients with more advanced disease. In contrast, none of the patients with the X-linked EDMD or with Emery-Dreifuss-like phenotype but no mutation in either genes showed this pattern of muscle involvement.

CONCLUSIONS

Our results suggest that patients with EDMD2 have a specific pattern of muscle involvement and that muscle MRI can be used, in combination with other techniques, to distinguish various genetic forms of Emery-Dreifuss muscular dystrophy.

Authors+Show Affiliations

Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, London, UK. e.mercuri@ic.ac.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11930270

Citation

Mercuri, E, et al. "Selective Muscle Involvement On Magnetic Resonance Imaging in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy." Neuropediatrics, vol. 33, no. 1, 2002, pp. 10-4.
Mercuri E, Counsell S, Allsop J, et al. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics. 2002;33(1):10-4.
Mercuri, E., Counsell, S., Allsop, J., Jungbluth, H., Kinali, M., Bonne, G., Schwartz, K., Bydder, G., Dubowitz, V., & Muntoni, F. (2002). Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics, 33(1), 10-4.
Mercuri E, et al. Selective Muscle Involvement On Magnetic Resonance Imaging in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. Neuropediatrics. 2002;33(1):10-4. PubMed PMID: 11930270.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. AU - Mercuri,E, AU - Counsell,S, AU - Allsop,J, AU - Jungbluth,H, AU - Kinali,M, AU - Bonne,G, AU - Schwartz,K, AU - Bydder,G, AU - Dubowitz,V, AU - Muntoni,F, PY - 2002/4/4/pubmed PY - 2002/6/13/medline PY - 2002/4/4/entrez SP - 10 EP - 4 JF - Neuropediatrics JO - Neuropediatrics VL - 33 IS - 1 N2 - OBJECTIVE: The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. PATIENTS AND METHODS: Nine patients with a diagnosis of EDMD2 had MRI scanning of their leg muscles. Seven other patients, four with the X-linked form of Emery-Dreifuss muscular dystrophy (EDMD) and three with an Emery-Dreifuss-like phenotype but no detectable mutations in either the emerin or the lamin A/C gene were also scanned as disease controls. RESULTS: All patients with EDMD2 showed a characteristic involvement of the posterior calf muscles. The medial head of the gastrocnemius was always predominantly involved while the lateral head was relatively spared. This pattern was more obvious in mildly affected patients in whom the other calf muscles were spared or only mildly involved but was also recognisable in the patients with more advanced disease. In contrast, none of the patients with the X-linked EDMD or with Emery-Dreifuss-like phenotype but no mutation in either genes showed this pattern of muscle involvement. CONCLUSIONS: Our results suggest that patients with EDMD2 have a specific pattern of muscle involvement and that muscle MRI can be used, in combination with other techniques, to distinguish various genetic forms of Emery-Dreifuss muscular dystrophy. SN - 0174-304X UR - https://www.unboundmedicine.com/medline/citation/11930270/Selective_muscle_involvement_on_magnetic_resonance_imaging_in_autosomal_dominant_Emery_Dreifuss_muscular_dystrophy_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2002-23593 DB - PRIME DP - Unbound Medicine ER -