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Emery-Dreifuss muscular dystrophy 5, autosomal dominant(EDMD5)

MedGen UID:
414111
Concept ID:
C2751805
Disease or Syndrome
Synonyms: EDMD5; EMERY-DREIFUSS MUSCULAR DYSTROPHY 5; SYNE2-Related Emery-Dreifuss Muscular Dystrophy
 
Gene (location): SYNE2 (14q23.2)
 
Monarch Initiative: MONDO:0013072
OMIM®: 612999

Definition

Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene. [from MONDO]

Clinical features

From HPO
Scapular winging
MedGen UID:
66822
Concept ID:
C0240953
Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
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.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Centrally nucleated skeletal muscle fibers
MedGen UID:
330782
Concept ID:
C1842170
Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
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.
Proximal amyotrophy
MedGen UID:
342591
Concept ID:
C1850794
Disease or Syndrome
Amyotrophy (muscular atrophy) affecting the proximal musculature.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Recent clinical studies

Etiology

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
Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A
Stroke 2003 Apr;34(4):901-8. Epub 2003 Mar 20 doi: 10.1161/01.STR.0000064322.47667.49. PMID: 12649505
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
Nagano A, Arahata K
Curr Opin Neurol 2000 Oct;13(5):533-9. doi: 10.1097/00019052-200010000-00005. PMID: 11073359

Diagnosis

Cotta A, Paim JF, Carvalho E, Valicek J, da Cunha Junior AL, Navarro MM, Vargas AP, Lima MI, de Almeida CF, Takata RI, Vainzof M
J Mol Neurosci 2019 Dec;69(4):623-627. Epub 2019 Aug 13 doi: 10.1007/s12031-019-01390-0. PMID: 31410651
Le Thanh P, Meinke P, Korfali N, Srsen V, Robson MI, Wehnert M, Schoser B, Sewry CA, Schirmer EC
Neuromuscul Disord 2017 Apr;27(4):338-351. Epub 2016 Dec 21 doi: 10.1016/j.nmd.2016.12.003. PMID: 28214269Free PMC Article
Madej-Pilarczyk A, Kochański A
Folia Neuropathol 2016;54(1):1-8. doi: 10.5114/fn.2016.58910. PMID: 27179216
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

Therapy

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
Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A
Stroke 2003 Apr;34(4):901-8. Epub 2003 Mar 20 doi: 10.1161/01.STR.0000064322.47667.49. PMID: 12649505
Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K
Nat Genet 1999 Mar;21(3):285-8. doi: 10.1038/6799. PMID: 10080180

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
Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Récan D, Shatunov A, Sewry CA, Brown SC
Brain 2006 May;129(Pt 5):1260-8. Epub 2006 Apr 3 doi: 10.1093/brain/awl062. PMID: 16585054
Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A
Stroke 2003 Apr;34(4):901-8. Epub 2003 Mar 20 doi: 10.1161/01.STR.0000064322.47667.49. PMID: 12649505
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

Le Thanh P, Meinke P, Korfali N, Srsen V, Robson MI, Wehnert M, Schoser B, Sewry CA, Schirmer EC
Neuromuscul Disord 2017 Apr;27(4):338-351. Epub 2016 Dec 21 doi: 10.1016/j.nmd.2016.12.003. PMID: 28214269Free PMC Article
Park YE, Hayashi YK, Goto K, Komaki H, Hayashi Y, Inuzuka T, Noguchi S, Nonaka I, Nishino I
Neuromuscul Disord 2009 Jan;19(1):29-36. Epub 2008 Dec 12 doi: 10.1016/j.nmd.2008.09.018. PMID: 19070492
Reichart B, Klafke R, Dreger C, Krüger E, Motsch I, Ewald A, Schäfer J, Reichmann H, Müller CR, Dabauvalle MC
BMC Cell Biol 2004 Mar 30;5:12. doi: 10.1186/1471-2121-5-12. PMID: 15053843Free PMC Article
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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