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  • CN168055 has been replaced by C3553060, showing C3553060

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

MedGen UID:
765974
Concept ID:
C3553060
Disease or Syndrome
Synonyms: EDMD7
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): TMEM43 (3p25.1)
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

Neck muscle weakness
MedGen UID:
66808
Concept ID:
C0240479
Finding
Decreased strength of the neck musculature.
Proximal neurogenic muscle weakness
MedGen UID:
325534
Concept ID:
C1838869
Sign or Symptom
A lack of strength of the proximal muscles.
Proximal amyotrophy
MedGen UID:
342591
Concept ID:
C1850794
Disease or Syndrome
Amyotrophy (muscular atrophy) affecting the proximal musculature.
Muscular dystrophy
MedGen UID:
351199
Concept ID:
C1864711
Finding
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.
Neck muscle weakness
MedGen UID:
66808
Concept ID:
C0240479
Finding
Decreased strength of the neck musculature.

Recent clinical studies

Etiology

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
Prigogine C, Richard P, Van den Bergh P, Groswasser J, Deconinck N
Pediatr Neurol 2010 Oct;43(4):283-6. doi: 10.1016/j.pediatrneurol.2010.05.016. PMID: 20837309
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
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
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

Diagnosis

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
Prigogine C, Richard P, Van den Bergh P, Groswasser J, Deconinck N
Pediatr Neurol 2010 Oct;43(4):283-6. doi: 10.1016/j.pediatrneurol.2010.05.016. PMID: 20837309
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
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
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

Therapy

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
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

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
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

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
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
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

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