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Emery-Dreifuss muscular dystrophy 7, autosomal dominant(EDMD7)

MedGen UID:: 765974
•Concept ID:: C3553060
•: Disease or Syndrome

Synonyms:	EDMD7; Emery-Dreifuss muscular dystrophy 7, AD

Gene (location): Gene(s) directly associated with this condition or phenotype.	TMEM43 (3p25.1)

Monarch Initiative:	MONDO:0013677
OMIM®:	614302

Definition

Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011). For a discussion of genetic heterogeneity of EDMD, see 310300. [from OMIM]

Clinical features

From HPO

Atrial fibrillation

MedGen UID:: 445
•Concept ID:: C0004238
•: Finding

An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.

See: Feature record | Search on this feature

Bradycardia

MedGen UID:: 140901
•Concept ID:: C0428977
•: Finding

A slower than normal heart rate (in adults, slower than 60 beats per minute).

See: Feature record | Search on this feature

Muscular dystrophy

MedGen UID:: 44527
•Concept ID:: C0026850
•: Disease or Syndrome

The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.

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Proximal muscle weakness

MedGen UID:: 113169
•Concept ID:: C0221629
•: Finding

A lack of strength of the proximal muscles.

See: Feature record | Search on this feature

Neck muscle weakness

MedGen UID:: 66808
•Concept ID:: C0240479
•: Finding

Decreased strength of the neck musculature.

See: Feature record | Search on this feature

Muscular atrophy

MedGen UID:: 892680
•Concept ID:: C0541794
•: Pathologic Function

The presence of skeletal muscular atrophy (which is also known as amyotrophy).

See: Feature record | Search on this feature

Increased variability in muscle fiber diameter

MedGen UID:: 336019
•Concept ID:: C1843700
•: Finding

An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.

See: Feature record | Search on this feature

Proximal amyotrophy

MedGen UID:: 342591
•Concept ID:: C1850794
•: Disease or Syndrome

Amyotrophy (muscular atrophy) affecting the proximal musculature.

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Abnormality of the cardiovascular system
- Atrial fibrillation
- Bradycardia
Abnormality of the musculoskeletal system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormality of the musculoskeletal system
- Abnormality of the musculature
  - Abnormal skeletal muscle morphology
    - Muscular dystrophy
      - Emery-Dreifuss muscular dystrophy
        Autosomal dominant Emery-Dreifuss muscular dystrophy
        Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Recent clinical studies

Etiology

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

Maggi L, D'Amico A, Pini A, Sivo S, Pane M, Ricci G, Vercelli L, D'Ambrosio P, Travaglini L, Sala S, Brenna G, Kapetis D, Scarlato M, Pegoraro E, Ferrari M, Toscano A, Benedetti S, Bernasconi P, Colleoni L, Lattanzi G, Bertini E, Mercuri E, Siciliano G, Rodolico C, Mongini T, Politano L, Previtali SC, Carboni N, Mantegazza R, Morandi L
Neurology 2014 Oct 28;83(18):1634-44. Epub 2014 Oct 1 doi: 10.1212/WNL.0000000000000934. PMID: 25274841

Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study.

Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P
J Cardiovasc Magn Reson 2006;8(5):723-30. doi: 10.1080/10976640600723862. PMID: 16891232

Lamin A/C truncation in dilated cardiomyopathy with conduction disease.

MacLeod HM, Culley MR, Huber JM, McNally EM
BMC Med Genet 2003 Jul 10;4:4. doi: 10.1186/1471-2350-4-4. PMID: 12854972 Free PMC Article

Current perspective new insights into the molecular basis of familial dilated cardiomyopathy.

Sinagra G, Di Lenarda A, Brodsky GL, Taylor MR, Muntoni F, Pinamonti B, Carniel E, Driussi M, Bristow MR, Mestroni L; Heart Muscle Disease Study Group
Ital Heart J 2001 Apr;2(4):280-6. PMID: 11374497

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC
Nat Genet 2000 Feb;24(2):153-6. doi: 10.1038/72807. PMID: 10655060

See all (7)

Diagnosis

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG
JAMA Neurol 2015 Jun;72(6):689-98. doi: 10.1001/jamaneurol.2015.37. PMID: 25938801 Free PMC Article

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.

Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Gualandi F, Ricci E, Rutherford M, Muntoni F
Ann Neurol 2010 Feb;67(2):201-8. doi: 10.1002/ana.21846. PMID: 20225280

Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study.

Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P
J Cardiovasc Magn Reson 2006;8(5):723-30. doi: 10.1080/10976640600723862. PMID: 16891232

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC
J Neurol Neurosurg Psychiatry 2005 Jul;76(7):1019-21. doi: 10.1136/jnnp.2004.046110. PMID: 15965218 Free PMC Article

Current perspective new insights into the molecular basis of familial dilated cardiomyopathy.

Sinagra G, Di Lenarda A, Brodsky GL, Taylor MR, Muntoni F, Pinamonti B, Carniel E, Driussi M, Bristow MR, Mestroni L; Heart Muscle Disease Study Group
Ital Heart J 2001 Apr;2(4):280-6. PMID: 11374497

See all (6)

Therapy

Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

Arimura S, Okada T, Tezuka T, Chiyo T, Kasahara Y, Yoshimura T, Motomura M, Yoshida N, Beeson D, Takeda S, Yamanashi Y
Science 2014 Sep 19;345(6203):1505-8. doi: 10.1126/science.1250744. PMID: 25237101

Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study.

Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P
J Cardiovasc Magn Reson 2006;8(5):723-30. doi: 10.1080/10976640600723862. PMID: 16891232

See all (2)

Prognosis

Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study.

Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P
J Cardiovasc Magn Reson 2006;8(5):723-30. doi: 10.1080/10976640600723862. PMID: 16891232

Current perspective new insights into the molecular basis of familial dilated cardiomyopathy.

Sinagra G, Di Lenarda A, Brodsky GL, Taylor MR, Muntoni F, Pinamonti B, Carniel E, Driussi M, Bristow MR, Mestroni L; Heart Muscle Disease Study Group
Ital Heart J 2001 Apr;2(4):280-6. PMID: 11374497

See all (2)

Clinical prediction guides

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE
J Card Fail 2001 Sep;7(3):249-56. doi: 10.1054/jcaf.2001.26339. PMID: 11561226

Current perspective new insights into the molecular basis of familial dilated cardiomyopathy.

Sinagra G, Di Lenarda A, Brodsky GL, Taylor MR, Muntoni F, Pinamonti B, Carniel E, Driussi M, Bristow MR, Mestroni L; Heart Muscle Disease Study Group
Ital Heart J 2001 Apr;2(4):280-6. PMID: 11374497

See all (3)

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Emery-Dreifuss muscular dystrophy 7, autosomal dominant(EDMD7)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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