Clinical aspects of Emery-Dreifuss muscular dystrophy

Madej-Pilarczyk, Agnieszka

doi:10.1080/19491034.2018.1462635

Cited by 45 publications

(72 citation statements)

References 63 publications

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“…They can affect the paraspinal ligaments and posterior cervical musculature so significantly that the patient's neck may become fixed in an extended position. The cervical spine rigidity may become prominent enough to alter neck anatomy, thereby leading to dysphagia . It is important to remember that early contractures, including congenital contractures, may be associated with other diseases.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…Within this spectrum, most patients with EDMD4, associated with SYNE1 mutations, manifest with gradually progressive muscle weakness and atrophy, joint contractures, and no significant cardiac involvement . EDMD5, on the other hand, classically presents with muscle weakness and cardiac features (eg, arrhythmia, DCM, heart failure) but no notable contractures …”

Section: Edmd3mentioning

confidence: 99%

“…Other potential symptoms include vocal cord paresis with dysphonia, facial weakness, ptosis, dysphagia, and respiratory compromise. Female carriers may have cardiac defects, either in isolation or along with mild skeletal muscle involvement . Mutations in FHL1 have also been associated with other myopathies, including reducing body myopathy, scapuloperoneal myopathy, X‐linked myopathy with postural muscle atrophy, and hypertrophic cardiomyopathy …”

Section: Edmd6mentioning

confidence: 99%

“…93,94 EDMD5, on the other hand, classically presents with muscle weakness and cardiac features (eg, arrhythmia, DCM, heart failure) but no notable contractures. 12…”

Section: Edmd4 and Edmd5mentioning

confidence: 99%

“…The cervical spine rigidity may become prominent enough to alter neck anatomy, thereby leading to dysphagia. 12 It is important to remember that early contractures, including congenital contractures, may be associated with other diseases. Collagenopathies such as Ullrich congenital muscular dystrophy and Bethlem myopathy may present with early contractures, as may SEPN1-related myopathy.…”

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confidence: 99%

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Emery‐Dreifuss muscular dystrophy

et al. 2019

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Emery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life‐threatening cardiac complications. EDMD classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy, although the presence and severity of these manifestations vary by subtype and individual. Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN, encoding emerin, lamin A/C, nesprin‐1, nesprin‐2, FHL1, LUMA, SUN1, SUN2, and titin, respectively. The Online Mendelian Inheritance in Man database recognizes subtypes 1 through 7, which captures most but not all of the associated genes. Genetic diagnosis is essential whenever available, but traditional diagnostic tools can help steer the evaluation toward EDMD and assist with interpretation of equivocal genetic test results. Management is primarily supportive, but it is important to monitor patients closely, especially for potential cardiac complications. There is a high potential for progress in the treatment of EDMD in the coming years.

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Section: Clinical Presentationmentioning

confidence: 99%

Section: Edmd3mentioning

confidence: 99%

Section: Edmd6mentioning

confidence: 99%

“…93,94 EDMD5, on the other hand, classically presents with muscle weakness and cardiac features (eg, arrhythmia, DCM, heart failure) but no notable contractures. 12…”

Section: Edmd4 and Edmd5mentioning

confidence: 99%

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Emery‐Dreifuss muscular dystrophy

et al. 2019

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Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia

Mastroianno

Pia

Castellana

et al. 2019

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Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy

et al. 2022

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Emery‐Dreifuss muscular dystrophy (EDMD) is a hereditary muscle disease, characterized by the clinical triade of early‐onset joint contractures, progressive muscle weakness, and cardiac involvement. Pathogenic variants in FHL1 can cause a rare X‐linked recessive form of EDMD, type 6. We report three men with novel variants in FHL1 leading to EDMD6. The onset of muscle symptoms was in late adulthood and muscle weakness was not prominent in either of the patients. All patients had hypertrophic cardiomyopathy and one of them also had cardiac arrhythmias. Western blot performed on muscle biopsies from two of the patients showed no FHL1 protein expression. We predict that the variant in the third patient also leads to the absence of FHL1 protein. Complete loss of all FHL1 isoforms combined with mild muscle involvement supports the hypothesis that loss of all FHL1 isoforms is more benign than the cytotoxic effects of expressed FHL1 protein with pathogenic missense variants.

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Clinical aspects of Emery-Dreifuss muscular dystrophy

Cited by 45 publications

References 63 publications

Emery‐Dreifuss muscular dystrophy

Emery‐Dreifuss muscular dystrophy

Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia

Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy

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