You are here: Home / Rare Disease Information / Rare Disease Database

Search Rare Diseases

Enter a disease name or synonym to search NORD's database of reports.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

Emery Dreifuss Muscular Dystrophy

NORD is very grateful to Jan Lammerding, PhD, Assistant Professor, Cornell University, for assistance in the preparation of this report.

Synonyms of Emery Dreifuss Muscular Dystrophy

  • EDMD

Disorder Subdivisions

  • autosomal dominant Emery-Dreifuss muscular dystrophy
  • autsomal recessive Emery-Dreifuss muscular dystrophy
  • X-linked Emery-Dreifuss muscular dystrophy

General Discussion

Emery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy). Major symptoms may include muscle wasting and weakness particularly in arms and lower legs (humeroperoneal regions) and contractures of the elbows, Achilles tendons, and upper back muscles. In some cases, additional abnormalities may be present. In most cases, EDMD is inherited as an X-linked or autosomal dominant disease. In extremely rare cases, autosomal recessive inheritance has been reported. Although EDMD has different modes of inheritance, the symptoms are nearly the same.

EDMD belongs to a group of rare genetic muscle disorders known as the muscular dystrophies. These disorders are characterized by weakness and atrophy of various voluntary muscles of the body. Approximately 30 different disorders make up the muscular dystrophies. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns.


The age of onset, severity, and progression of EDMD varies greatly from case to case even among individuals of the same family. Some affected individuals may experience childhood onset with rapid disease progression and severe complications; others may experience adult onset and a slowly progressive course.

EDMD is associated with the clinical triad of contractures, muscle weakness, and heart disease. A contracture occurs when thickening and shortening of tissue causes deformity and restricts movement of affected areas, especially the joints. The elbows and Achilles tendons are the most common sites for contractures. Contractures are often the first sign in X-linked EDMD and may occur early during childhood. In autosomal dominant EDMD contractures usually develop after the onset of muscle weakness.

Progressive muscle weakness and degeneration (atrophy) usually develops during late childhood or early adolescence usually in the upper arms and lower legs (humero-peroneal regions). Weakness and atrophy of legs muscles may cause affected children to walk on their toes and may result in an abnormal waddling gait. Muscle weakness affecting the arms may cause various problems such as difficulty in raising the arms above the head.

Eventually, the muscles of the thigh and hips may become involved making it difficult to climb stairs. The neck, shoulder girdle, and forearms may eventually become involved and the spine may become rigid. As affected individuals age, they may experience limited mobility of the neck. Mild weakness of facial muscles has also been reported. Abnormal curvature of spine (scoliosis) may also occur.

Muscle weakness and atrophy is usually slowly progressive during the first three decades of life. Eventually, it may become more rapid. Some individuals with autosomal dominant EDMD may eventually lose the ability to walk (ambulate) and require a wheelchair. Loss of ambulation is rare in X-linked EDMD.

Heart abnormalities are the third prominent feature of EDMD and may result in serious complications. Although onset can vary, heart abnormalities usually develop after the second decade of life. Affected individuals may develop disease of the heart muscles (cardiomyopathy) potentially resulting in palpitations, fatigue, poor exercise tolerance, and an impaired ability of the heart to pump blood. Some individuals may experience conduction defects resulting in irregular heartbeats (arrhythmias) or heart block.

Heart block is characterized by interference with the transfer of the electrical nerve impulses (conduction) that regulate the normal, rhythmic, pumping action of the heart muscle. The normal heart has four chambers. The two upper chambers are the atria and the two lower chambers are the ventricles. Within the right atrium of a normal heart is a natural pacemaker that initiates and controls the heartbeat. The electrical stimulus travels from the pacemaker (sinoatrial or SA node) to the ventricles along a very specific path consisting of conducting tissue and known as the AV (atrioventricular) node. As long as the electrical impulse is transmitted normally, the heart behaves normally. If the transmission of the signal is impeded, the blocked transmission is known as a heart block or an AV block.

Heart blocks are categorized according to the degree of impairment. The severity of such conduction abnormalities varies among individuals with EDMD. In the mild form of heart block, the two upper chambers of the heart (atria) beat normally, but the contractions of the two lower chambers (ventricles) lag slightly behind. In the more severe forms, only a half to a quarter of the atrial beats are conducted to the ventricles. In complete heart block, the atria and ventricles beat separately. In some cases, heart block may lead to blackouts (syncope), breathlessness, and/or irregular heartbeats (arrhythmias). In severe cases, sudden death is possible.


In most cases, EDMD is inherited as an X-linked recessive trait. EDMD may also be inherited as an autosomal dominant trait. Autosomal recessive inheritance is extremely rare, but has been reported in at least one family. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome Xq28" refers to band 28 on the long arm of the X chromosome. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the defective gene. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a defective gene he will develop the disease.

Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.

If a male with an X-linked disorder is able to reproduce, he will pass the defective gene to all of his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.

Investigators have determined that the X-linked form of EDMD is caused by disruption or changes (mutations) of the EMD (also known as STA) gene located on the long arm of the X chromosome (Xq28). The EMD gene encodes a muscle protein known as emerin. Emerin is found in most cell types of the body and skeletal and cardiac muscle have particularly high expression levels.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.

Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Investigators have determined that the autosomal dominant and autosomal recessive forms of EDMD are caused by mutations of the same gene located on the long arm of the chromosome 1 (1q21.2). The gene is known as the LMNA gene and encodes the proteins lamin A and lamin C. Interestingly, mutations in this gene also cause a variety of other human diseases, including limb-girdle muscular dystrophy, dilated cardiomyopathy, Dunnigan-type familial partial lipodystrophy, and the premature aging disease Hutchinson-Gilford progeria syndrome.

EDMD can also result from mutations in the nuclear envelope proteins nesprin-1 and -2, which also directly interact with emerin. Mutations in SUN proteins, which form a complex with nesprins to connect the nucleus to the cytoskeleton, can also cause EDMD. These findings suggest that disruption in the LINC (Linker between nucleoskeleton and cytoskeleton) complex can contribute to the muscular phenotype in EDMD.

Affected Populations

The overall prevalence of EDMD is unknown. The X-linked form is estimated to affect 1 in 100,000 people in the general population. EDMD is believed to be the third most common form of muscular dystrophy. X-linked EDMD is fully expressed in males only. Approximately 10-20 percent of female carriers for X-linked EDMD will develop heart conduction defects and/or muscle weakness. The autosomal dominant and recessive forms of EDMD affect males and females in equal numbers.

Approximately 250,000 individuals in the United States are affected by some form of muscular dystrophy.

Related Disorders

Symptoms of the following disorders can be similar to those of EDMD. Comparisons may be useful for a differential diagnosis.

The dystrophinopathies are a spectrum of muscle diseases caused by mutations of the mutations of the DMD gene located on the X chromosome. The severe end of the spectrum includes muscles diseases known as Duchenne muscular dystrophy and Becker muscular dystrophy. Duchenne muscular dystrophy is the most prevalent form of childhood muscular dystrophy. The disorder typically is recognized from approximately age three to six years and has a relatively rapid, progressive disease course. Duchenne muscular dystrophy is initially characterized by muscle weakness and wasting (atrophy) within the pelvic area that may be followed by involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve most major muscles of the body. Becker muscular dystrophy usually begins during the second or third decade of life. This slowly progressive disorder affects males almost exclusively. Muscles of the hips and shoulders are weakened, walking abnormalities develop, and mild mental retardation may be present. Eventually, other more severe symptoms may involve the heart and lungs. Both Duchenne and Becker muscular dystrophy are inherited as X-linked recessive traits. (For more information about these disorders, choose "Duchenne or Becker" as your search in the Rare Disease Database.)

Facioscapulohumeral muscular dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy, is a neuromuscular disorder. Symptom onset usually occurs in adolescence or early adulthood; however, less commonly, symptoms may become apparent as early as infancy or early childhood. The disorder is typically initially characterized by weakness of facial, shoulder, and/or upper arm muscles. Associated abnormalities may include an impaired ability to completely close the eyes, limited movements of the lips, and difficulties raising the arms over the head. Affected individuals may also eventually develop weakness and associated wasting (atrophy) of muscles of the hips and thighs and/or involvement of lower leg muscles. Although the disease course may be variable, FSHD is most typically characterized by relatively slow disease progression. Specific symptoms and findings may also vary in range and severity, including among affected members of the same family (kindred). FSHD is usually inherited as an autosomal dominant trait. However, in up to approximately 30 percent of affected individuals, there is no apparent family history of the disorder. In some of these cases, FSHD may be due to new genetic changes (mutations) that appear to occur spontaneously for unknown reasons (sporadically). (For more information on this disorder, choose "facioscapulohumeral muscular dystrophy" as your search term in the Rare Disease Database.)

Limb-girdle muscular dystrophy (LGMD) is a generic term for a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body. Approximately 15 different subtypes have been identified based upon abnormal changes (mutations) of certain genes. The age of onset, severity, and progression of symptoms of these subtypes varies greatly even among individuals in the same family. Some individuals may have a mild, slowly progressive form of the disorders; other may have a rapidly progressive form of the disorder that causes severe disability. The term limb-girdle muscular dystrophy is a general term that encompasses several disorders. These disorders can now be distinguished by genetic and protein analysis. At least 15 subtypes have been identified. The various forms of LGMD may be inherited as an autosomal dominant or recessive trait. Autosomal dominant LGMD is known as LGMD1 and has five subtypes (LGMDA-E). Autosomal recessive LGMD is known as LGMD2 and has 10 subtypes (LGMDA-J). (For more information on this disorder, choose “limb-girdle muscular dystrophy” as your search term in the Rare Disease Database.)

Rigid spine syndrome is a rare neuromuscular disorder characterized by abnormal rigidity of the spine. Symptoms may include loss of muscle tone (hypotonia), muscle weakness, joints that are fixed in a flexed or extended position (contractures) and degeneration (atrophy) of muscles. Affected individuals often have abnormal side-to-side curvature of the spine (scoliosis). Rigid spine syndrome often occurs in association with other congenital neuromuscular disorders such as Emery-Dreifuss muscular dystrophy. The exact cause of rigid spine syndrome is unknown.

Additional forms of muscle disease (myopathy) are considered differential diagnoses for LGMD including metabolic myopathies such as Pompe disease; inflammatory myopathies such as dermatomyositis or polymyositis; and distinct congenital myopathies such as nemaline myopathy. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)

Standard Therapies

A diagnosis of X-linked EDMD is based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms (contractures, myopathy, heart defects, etc.), surgical removal and microscopic study (biopsy) of affected tissue, and specialized tests such as immunodetection and molecular genetic testing.

Through immunodetection, physicians can determine the presence and levels of certain proteins such as emerin in tissue samples obtained from affected individuals. Various techniques such as immunofluorescence or Western blot can be used. These tests involve the use of certain antibodies that react to certain proteins. Samples taken from tissue biopsies are exposed to these antibodies and the results can determine whether a specific protein such as emerin is present and in what quantity. In approximately 95 percent of individuals with X-linked EDMD emerin is absent.

Molecular genetic testing involves the examination of deoxyribonucleic acid (DNA) to identify specific a genetic mutation.

The diagnosis of autosomal dominant or recessive EDMD is based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings, and molecular genetic testing. Immunodetection cannot be used to aid in the diagnosis of the autosomal forms of EDMD because the associated proteins, lamin A and C, are not absent in affected individuals. However, mislocalization of emerin, i.e., an abnormal distribution of emerin within the cell, can often be indicative of mutations in lamins A and C.

Additional tests that may be used to aid in the diagnosis of EDMD include specialized blood tests and a test that assesses the health of muscles and the nerves that control muscles (electromyography). Blood tests may reveal elevated levels of the creatine kinase (CK), an enzyme that is often found in abnormally high levels when muscle is damaged. The detection of elevated CK levels can confirm that muscle is damaged or inflamed, but cannot confirm a diagnosis of EDMD.

During an electromyography, a needle electrode is inserted through the skin into an affected muscle. The electrode records the electrical activity of the muscle. This record shows how well a muscle responds to the nerves and can determine whether muscle weakness is caused by the muscle themselves or by the nerves that control the muscles. An electromyography can rule out nerve disorders such as motor neuron disease and peripheral neuropathy.

Individuals with EDMD may receive an electrocardiogram, a test that records the heart's electrical impulses and may reveal abnormal electrical patterns.

No specific treatment exists for EDMD. Treatment is aimed at the specific symptoms present in each individual. Treatment options may include physical therapy and active and passive exercise to build muscle strength and prevent contractures. Surgery may be recommended in some cases to treat contractures or scoliosis. The use of mechanical aids (e.g., canes, braces, and wheelchairs) may become necessary to aid walking (ambulation).

Clinical Testing and Work-Up
Children diagnosed with EDMD should be monitored regularly for potential heart involvement. In the case of serious heart involvement, cardiac pacemakers may be implanted and treatment with antiarrhythmic drugs may become necessary.

Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Heart transplantation has been attempted in individuals with EDMD with serious cases of heart involvement. More research is required to determine the long-term outcome of this procedure on individuals with this form of muscular dystrophy.

Information on current clinical trials is posted on the Internet at All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010

For information about clinical trials sponsored by private sources, contact:

Emery Dreifuss Muscular Dystrophy Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at

Other Organizations:


Banwell B. Emery-Dreifuss Muscular Dystrophy. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003:624.

Bennett JC, Plum F., eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:2161-3.

Ho CY, Lammerding J. Lamins at a Glance. J Cell Sci. 2012; 125: 2087-2093.

Taranum S, Vaylann E, Meinke P, et al. LINC complex alterations in DMD and EDMD/CMT fibroblasts. Eur J Cell Biol. 2012;91(8):614-28.

Meinke P, Nguyen TD, Wehnert MS. The LINC complex and human disease. Biochem Soc Trans. 2011;39(6):1693-7.

Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol. 2011;101:155-66.

Zhang Q, Bethmann C, Worth NF, et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet. 2007;16(23):2816-33.

Wheeler MA, Davies JD, Zhang Q, et al. Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. Exp Cell Res. 2007;313(13):2845-57.

Ellis JA. Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on. Cell Mol Life Sci. 2006;63(23):2702-9.

Muntoni F. Cardiomyopathy in muscular dystrophies. Curr Opin Neurol. 2003;16(5):577-83.

Sanna T, Dello Russo A, Toniolo D, et al., Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J. 2003;24(24):2227-36.

Wehnert MS, Bonne G. The nuclear muscular dystrophies. Semin Pediatr Neurol. 2002;9(2):100-7.

Emery AE. The muscular dystrophies. Lancet. 2002;359(9307):687-95.

Emery AE. Emery-Dreifuss muscular dystrophy: a 40 year retrospective. Neuromuscul Disord. 2000;10(4-5):228-32.

Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 1999;48(2):170-80.

Bione S, Maestrini E, Rivella S, et al, Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994;8(4):323-7.

Bonne G, Leturcq F, Yaou RB. (Updated August 24, 2010). Emery-Dreifuss Muscular Dystrophy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2012. Available at Accessed August 31, 2012.

Lopate G. Emery-Dreifuss Muscular Dystrophy. Emedicine. Updated June 23, 2011. Accessed August 31, 2012.

Emery-Dreifuss Muscular Dystrophy. Muscular Dystrophy Association. Accessed August 31, 2012.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2012/09/07 00:00:00 GMT+0

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.

Copyright ©2015 NORD - National Organization for Rare Disorders, Inc. All rights reserved.
The following trademarks/registered service marks are owned by NORD: NORD, National Organization for Rare Disorders, the NORD logo, RareConnect. .