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]

Although all forms share a similar clinical presentation, some differences appear to exist between them as has been described recently in a large number of patients. [ncbi.nlm.nih.gov]

Electromyography shows diminished or absent spontaneous muscle activity and motor units present an activity of short duration and low amplitude. It is important to examine the most affected muscles. [doctortipster.com]

• Waddling Gait

  Waddling gait, lumbar lordosis, and weakness of the shoulder girdle become apparent during adolescence. Mild pectus excavatum may be present. [whonamedit.com]

  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]

  Gradually, he experienced fatigue after walking a short distance, which was slowly accompanied by waddling gait. Subsequently, the neck could not move forward, and the elbow could not be kept straight. [bmcmedgenet.biomedcentral.com]

  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]

• Aphasia

  IQSEC2 Mental retardation KDM5C Mental retardation, syndromic, Claes-Jensen KIAA2022 Mental retardation KLF8 L1CAM CRASH syndrome, Corpus callosum, partial agenesis, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Mental retardation, aphasia [genda.com.ar]

Lack of dystrophin leads to cellular instability at these links, with progressive leakage of intracellular components; this results in the high levels of creatine phosphokinase (CPK) noted on routine blood workup of patients with Duchenne MD. [emedicine.medscape.com]

• Myocardial Fibrosis

  Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. J Am Coll Cardiol. 2007; 49 :2430–9. [ PubMed : 17599607 ] Vlcek S, Foisner R. A-type lamin networks in light of laminopathic diseases. [ncbi.nlm.nih.gov]

Emery-Dreifuss Muscular Dystrophy – Muscle Biopsy Emery-Dreifuss Muscular Dystrophy Treatment Emery-Dreifuss muscular dystrophy has no specific treatment. [doctortipster.com]

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]

Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [books.google.com]

There is no definitive treatment available for Emery-Dreifuss Muscular Dystrophy. However, there are methods to suppress the symptoms or assist the heart, in order to prevent a sudden death. [dovemed.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The management is aimed more at treating the symptoms and controlling the complications (if any) The prognosis depends on the severity of the muscle contractures and the degree of cardiac involvement Emery-Dreifuss Muscular Dystrophy is a genetic disorder [dovemed.com]

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]

Prognosis Despite modern advances in gene therapy and molecular biology, MD remains incurable. [emedicine.medscape.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Both genetic and environmental factors have been implicated in BD etiology, but the biological underpinnings remain elusive. [n-grid.org]

(Etiology) Emery-Dreifuss Muscular Dystrophy is caused by mutations in the EMD or LMNA gene. [dovemed.com]

Genetic Testing Genetic testing can determine the presence of particular defects that cause EDMD and can help predict the course of the disease, as well as help assess the risk of passing the disease on to the next generation. [1] Etiology/Causes Genes [physio-pedia.com]

Etiology Classification of types of muscular dystrophy The etiology of MD is an abnormality in the genetic code for specific muscle proteins. [8] They all are classified according to the clinical phenotype, the pathology, and the mode of inheritance. [emedicine.medscape.com]

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]

Study/Australian Ovarian Cancer Study (AUS)], and five from Europe [the German Ovarian Cancer Case-Control Study (GER), MALOVA Ovarian Cancer Case-Control Study, Danish Cancer Society, Denmark (MAL), the Polish Ovarian Cancer Study (POL), Studies of Epidemiology [cebp.aacrjournals.org]

Epidemiology Frequency No good data exist concerning the frequency of EMD1 or EMD2, but more than 70 different mutations have been reported in the EMD gene and more than 100 in LMNA. [emedicine.medscape.com]

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet 1997;34: 973-977. -Fardeau M, Eymard B, Mignard C, Tomé FM, Richard I, Beckmann JS. [wellpath.uniovi.es]

Although the pathophysiology is not understood, one theory suggests that disordered structural organisation at weakened nuclei in contractile cells may underlie the disease. [ncbi.nlm.nih.gov]

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]

Orthopedic treatment is aimed to maintain patient mobility for as long as possible and is needed to correct or to prevent muscle contractures and to increase range of motion. [doctortipster.com]

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. [genpharmservices.com]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]