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Cardiac Hypertrophy, Heart Failure and Cardiomyopathy
Published in Mary N. Sheppard, Practical Cardiovascular Pathology, 2022
The X-linked gene responsible for Emery-Dreifuss muscular dystrophy, emerin (another nuclear lamin protein), causes similar clinical features. Other DCM genes of this type include desmin, caveolin and α- and β-sarcoglycan, as well as the mitochondrial respiratory chain gene. X-linked DCM is also caused by the Duchenne muscular dystrophy dystrophin gene, whereas G 4.5 (tafazzin), causes Barth syndrome, which is an X-linked cardioskeletal myopathy in infants.22
Muscle, Bone, and Skin Disorders
Published in Victor A. Bernstam, Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
Emery-Dreifuss muscular dystrophy is an X-linked disorder characterized by relatively benign muscle wasting of the humeral and peroneal muscle groups as well as limb girdle muscle, and involves the heart at an early stage. The candidate gene has been firmly assigned to the distal arm of the X chromosome, and appears to be located in Xq28, distal to DXS305.
Diseases of Muscle and the Neuromuscular Junction
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Chris Turner, Anthony Schapira
There are six types of Emery–Dreifuss muscular dystrophy (EDMD). The classic form, or Emery–Dreifuss muscular dystrophy type 1 is linked to Xq28, the STA gene, whose product is called emerin. This is a 34-kDa protein, which is ubiquitously expressed at the nuclear membrane, but the precise function of which remains unclear. Antibodies are available to emerin and a mutation in the emerin gene usually leads to loss of immunoreactivity. The diagnosis of Emery–Dreifuss muscular dystrophy may be made by observing the absence of immunostaining for emerin protein in peripheral whole blood cells or muscle biopsy.
Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study
Published in International Journal of Neuroscience, 2023
Cheng Zhang, Cui-jie Wei, Zhe Jin, Jing Ma, Yan-e Shen, Qing Yu, Yan-bin Fan, Hui Xiong, Cheng-li Que
There were 27 cases with the other types of NMDs (including 4 cases of limb-girdle muscular dystrophy, 4 cases of Bethlem myopathy, 2 cases of Emery-Dreifuss muscular dystrophy, 2 cases of reducing body myopathy, 2 cases of hereditary motor and sensory neuropathy, one case of facioscapulohumeral muscular dystrophy, one case of FLNC related myopathy, one case of inflammatory myopathy, one case of MYH7-related myopathy, one case of congenital myasthenic syndrome, one case of congenital myotonia, one case of myasthenia gravis, and 6 cases of other NMD. Among them, there was one child (15-year-old girl) with clinically suspected congenital myasthenic gravis syndrome and the diagnosis was not confirmed genetically. There was one case of myasthenia gravis and one case of inflammatory myopathy enrolled in the present study. The child with myasthenia gravis (13-year-old girl) was negative for all relevant antibodies which have been tested. The child of inflammatory myopathy (10-year-old girl) was immune-mediated necrotizing myopathy and positive for anti-SRP antibody.
Understanding left ventricular hypertrabeculation/noncompaction: pathomorphologic findings and prognostic impact of neuromuscular comorbidities
Published in Expert Review of Cardiovascular Therapy, 2019
Claudia Stöllberger, Josef Finsterer
When patients with LVHT are systematically referred to a myologist, a NMD might be found in up to 80% of the patients [17]. The NMDs most frequently associated with LVHT comprise mitochondrial disorders, Barth syndrome, zaspopathy, myotonic dystrophy type 1, dystrobrevinopathy, and Emery–Dreifuss muscular dystrophy owing to LMNA mutations (Table 6) [96]. Recently, a number of mutated new genes have been found that cause NMD, but without the presence of LVHT in any of the patients reported so far [35]. On the contrary, mutations in the same gene may be associated with LVHT but without the presence of NMD [35]. This phenotypic heterogeneity remains unexplained, but it is well-established that mutated genes may have a different phenotypic profile in different members of a family with LVHT [33].
An update on diagnostic options and considerations in limb-girdle dystrophies
Published in Expert Review of Neurotherapeutics, 2018
Corrado Angelini, Laura Giaretta, Roberta Marozzo
Among genetic entities which need to be differentiated from LGMD and in which specific gene testing is helpful in the differential diagnosis, there are: dystrophinopathies (DMD, Becker dystrophy, female DMD carriers), these cases may present similar onset and pattern of muscle weakness to some LGMD (for instance sarcoglycanopathies). Indeed, several patients diagnosed as LGMD were found to have a dystrophinopathy that might be easily mistaken with FKRP myopathy.facio-scapulo-humeral muscular dystrophy (FSHD) may be confused with calpainopathy with Erb presentation, if both pelvic and shoulder girdles are involved since scapular winging is a common feature, and nonspecific myopathic changes in muscle biopsy can be seen; facial weakness is uncommon in LGMD, this feature may be minimal or appear later even in the course of FSHD. About 8% of patients diagnosed as LGMD actually have FSHD; it should be considered that FSHD might have an atypical presentation with marked asymmetry.Emery–Dreifuss muscular dystrophy may share overlapping clinical features with LGMD, including cardiac involvement and severe joint contractures.Bethlem myopathy, due to mutations in collagen VI genes, may present in childhood and adult life and constitute another differential diagnosis to LGMD, so in the revised ENMC classification this group has been included in LGMD.