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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): 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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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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: 12854972Free 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

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: 25938801Free 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: 15965218Free 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

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

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

Clinical prediction guides

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: 15965218Free PMC Article
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

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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