Cardiac imaging revealed dilated cardiomyopathy in two of the individuals, one of whom was presented with heart failure. The second patient presented with no significant abnormalities in cardiac structure or function. [spandidos-publications.com]

This report presents the cases of two brothers with this dystrophy in whom bilateral hypomyelination of the deep periatrial white matter was noted. [ajnr.org]

We present a patient with LGMD type 1B with a novel heterozygous mutation in the lamin A/C gene. Case Presentation A 47-year old woman presented with progressive proximal weakness of the extremities since early adulthood. [omicsonline.org]

It presents slowly progressive muscle weakness and atrophy (initially and generally with a humeroperoneal distribution but later becoming more diffuse). [orpha.net]

• Euthyroid

  Her past medical history included a euthyroid goitre, atrial fibrillation and failed cardioversion twice. Medications included warfarin and bisoprolol. [omicsonline.org]

• Aspiration

  He died in his fourth decade due to pulmonary aspiration. The variant found in our patient (c.1588C>T) has never been described in the literature. [elsevier.es]

  Diet texture modifications and/or physical maneuver may improve swallow and reduce aspiration. Alternative nutritional support such as gastrostomy tubes should be considered if nutritional requirements cannot be met orally. [now.aapmr.org]

• Gagging

  […] symptoms and findings Exon Domain Mutation Effect of mutation Inheritance A 17/F Contractures of elbows and Achilles tendons 1 Rod domain Del94-96 DelK32 AD/Fam Rigid spine coil 1a B 15/M Contractures of elbows and Achilles tendons 1 Rod domain Del GAG [academic.oup.com]

• Chest Deformity

  At the age of 19, he developed restrictive chronic respiratory failure secondary to chest deformities. When he was 29, he underwent pacemaker implantation due to complete atrioventricular block. [elsevier.es]

• Neck Muscle Weakness

  Dear Editor, Full Text Emery-Dreifuss muscular dystrophy (EDMD) is characterised by the following clinical triad: joint contractures beginning in childhood and initially affecting elbows, ankles, and neck; muscle weakness initially in a humero-peroneal [elsevier.es]

• Winged Scapula

  Proband clinical features: winged scapulae and combination of thigh atrophy and calf pseudo-hypertrophy. Figure 2. [frontiersin.org]

• Waddling Gait

  At age 9 years, he showed Gowers sign, waddling gait, and proximal dominant limb muscle weakness and atrophy. No joint contractures were observed (Figure 1). [mafiadoc.com]

  At age 7 years, she had generalized hypotonia, waddling gait, and severe limb muscle wasting and weakness. Muscle Nerve, 27pp. Bethlem J, Knobbout CE. [gualdetxumbtt.club]

  The first patient was a 9-year-old boy who developed proximal muscle weakness and atrophy of the lower limbs, waddling gait, and lordotic posture by age 6. He had showed unsteady gait at age 4. [genome.jp]

  Clinical signatures of disease include tiptoe walking, waddling gait, difficulty in running and climbing stairs, scapular winging. [frontiersin.org]

  I shall always remember his greeting because as he walked toward me he exhibited a gait which is almost diagnostic of the disease. He was in his 50s and walked with a waddling gait. But apart from lordosis, he also walked with both elbows bent. [ambassadors.net]

• Hyporeflexia

  Assessment of the patient's brother, aged 21, revealed an irregular heart beat on cardiac auscultation, and neurological study identified myotatic hyporeflexia, mild atrophy, no upper limb muscle weakness, forearm extension limited to +150/160° and preserved [elsevier.pt]

  Generalized Ascending/Descending/Systemic Unilateral (UL) or Bilateral (BL) or No Lateralization (NL) Onset Lab or Imaging Findings Specific test Adult Botulism + - + + Generalized Descending BL Sudden Toxin test Blood, Wound, or Stool culture Diplopia, Hyporeflexia [wikidoc.org]

This was even more so since the introduction of imaging—and especially MRI—into routine diagnostic workup and research in inherited muscle disease. [scinapse.io]

[…] genetic analysis; the LMNA and STA genes were analyzed by polymerase chain reaction, single-strand conformation polymorphism (SSSP), and sequencing. 13 At the time of initial diagnosis (or suspicion) of EDMD, all of the subjects received a cardiological workup [ahajournals.org]

Management and treatment Management should include orthopaedic measures (orthopaedic apparatus, surgery for the Achilles tendon contractures and scoliosis), treatment of the cardiac disease: anti-arrhythmic agents including beta-blockers, diuretics, ACE [orpha.net]

However, carriers tend not to present with muscle weakness or contractures. [1] Medical Management (current best evidence) There is no specific treatment for EDMD. Treatment is determined based on individual symptoms. [physio-pedia.com]

Treatment of Dunnigan Lipodystrophy FPLD2 treatment must be based on an interdisciplinary approach that includes an endocrinologist, nutritionist, and psychologist. [scirp.org]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.de]

Prognosis Prognosis depends on the severity of the tendon contractures, and of the cardiac and respiratory involvement. Patients with severe forms of the disease may lose the capacity to walk or require intermittent nasal ventilation. [orpha.net]

Thus these therapies are not likely to be an available for many years, Prognosis Most forms of muscular dystrophy are chronic and progressive and persist throughout life. [brainfoundation.org.au]

Natural History, Complications and Prognosis Prognosis The severity of disability depends on the type of muscular dystrophy. All types of muscular dystrophy slowly get worse, but how fast this happens varies widely. [wikidoc.org]

Prognosis Without serious heart involvement, most people with EDMD are expected to survive at least into middle age. Slow progression of muscle involvement allows most patients to walk and work until middle age or late adult life. [mda.org.au]

The two sections are introduced by a didactic and general overview, describ ing the main symptoms, classification and classical etiology. [books.google.com]

Etiology Several causative genes have been identified encoding ubiquitous proteins: emerin ( EMD ; Xq28 and FHL1 ; Xq26.3) for X-linked EDMD and lamin A/C ( LMNA ; 1q21.2) and LUMA ( TMEM43 ) for EDMD with autosomal transmission. [orpha.net]

The arrhythmogenic ventricular dysplasia, whose etiology has not yet been established and is more rare than EDMD, may appear as an atrial arrhythmia similar to EDMD, but there is no neurologic commitment 10. [scielo.br]

[…] screening | Proteins | Ostomy | Prenatal diagnosis | Child development | Antibiotics | Rodents | Gene manipulation | Diagnosis | Humerus | Genetic counselling | Brain diseases | Muscular Dystrophy, Emery-Dreifuss - genetics | Cardiomyopathy, Dilated - etiology [query.library.utoronto.ca]

Human Gene Mutation Database (HGMD) - Cardiff European Bioinformatics Institute (EBI) - mutations Locus Specific DataBases (LSDB's) Human Genome Variation Society (HGVS) nomenclature used to describe mutations Links to diagnostic services diagnosis/epidemiology [dmd.nl]

Summary Epidemiology Prevalence is estimated at 1 in 300,000. [orpha.net]

Myology (14-18 March 2016; Centre convention, Lyon, France) 2016, p. 178-181 DMED : 15e réunion annuelle du réseau français Cukierman L 2016 Un nouveau phénotype pour les titinopathies Urtizberea JA 2016 A Systematic Review and Meta-analysis on the Epidemiology [myobase.org]

Few relevant investigations have been reported on its epidemiology and were essentially based on clinical diagnosis, having been performed before recognition of the molecular mutation. [5wo.tatter.us]

Pathophysiology and classification of persistent con tractures are described as well as therapy. Each chapter is thoroughly referenced, representing important progress in research in the field. [books.google.com]

Pathophysiology In 5 of 6 gene mutations that have been shown to cause EDMD, the affected protein is present in the LINC (linker of nucleoskeleton and cytoskeleton) complex. [emedicine.medscape.com]

In light of the pathophysiology of Emery-Dreifuss muscular dystrophy, there may be prominence of the macromolecular region as a result of more basic myelin components in the periventricular areas of signal intensity abnormality, and the prominent peak [ajnr.org]

Defining how lamin mutations alter cardiac-cell biology should ultimately increase our understanding of the pathophysiology of dilated cardiomyopathy. [nejm.org]

The second model proposes that mutations in lamin A/C cause change in gene expression, which promote the pathophysiology of the various diseases (14). [thefreelibrary.com]

Resources Education about muscular dystrophy is the most important tool with which to manage and prevent complications. [clevelandclinic.org]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.de]

Ankle and foot braces are used to prevent leg deformity. Surgery may be necessary to release contractures. Exercise can help maintain muscle use and overall good health. [mda.org.au]

Further muscle atrophy around the shoulder girdle prevents patients from being able to hold their arms extended or up in the air. Cardiomyopathy, or atrophy of the heart muscle, affects some forms of LGMD. [musculardystrophynews.com]

Centers for Disease C, Prevention. Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years – four states, 2007. MMWR Morb. Mortal. Wkly. Rep. Oct 16 2009;58(40):1119-1122. 5. [cdc.gov]