U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Synonyms
Benign scapuloperoneal muscular dystrophy with cardiomyopathy; HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY; LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal; Limb-girdle muscular dystrophy, type 1B; MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; Muscular dystrophy, proximal, type 1B; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY

Summary

Excerpted from the GeneReview: Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Gisèle Bonne
France Leturcq
Rabah Ben Yaou
view full author information

Available tests

137 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (137 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1, LMNA
    Summary: lamin A/C

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.