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]

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]

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]

• Pain

  Pain is usually not a feature of MD (except in some cases of myotonic dystrophy). [clevelandclinic.org]

  Myotonic dystrophy and pain management of a patient undergoing total abdominal hysterectomy in a metropolitan general hospital. Anaesth Intensive Care 2006; 34:506-509. [ Links ] 57. Chuang MC, Duggan LV, Van Heest RD, et al. [scielo.org.co]

  Dejerine-Sottas disease RAB7A Charcot-Marie-Tooth disease REEP1 Distal hereditary motor neuronopathy, Spastic paraplegia SACS Spastic ataxia, Charlevoix-Saguenay SBF1 Charcot-Marie-Tooth disease SBF2 Charcot-Marie-Tooth disease SCN9A Paroxysmal extreme pain [genda.com.ar]

• Heart Block

  Thus, affected individuals may die suddenly from heart block, or develop progressive cardiac failure. The latter may occur subsequent to the insertion of a pacemaker to correct an arrhythmia. [genpharmservices.com]

  Conduction defects can manifest as heart rhythm disturbances known as arrhythmias or, more seriously, heart block. Heart block is a dangerous situation where the heart is unable to respond correctly to its own electrical system. [mda.org.au]

  Cardiac complications include atrial rhythm and conduction disorders, which range from PR prolongation to P waves to permanent atrial paralysis and complete, frequently fatal heart block, usually before the age of 55 years. Mental retardation. [whonamedit.com]

  Note evidence of heart block at the later age. [ambassadors.net]

  Each mutation caused heritable, progressive conduction-system disease (sinus bradycardia, atrioventricular conduction block, or atrial arrhythmias) and dilated cardiomyopathy. Heart failure and sudden death occurred frequently within these families. [nejm.org]

• Tachycardia

  The ECG demonstrated only sinus tachycardia in the youngest patient (Patient 2; 12-years old). [spandidos-publications.com]

  Frequent supraventricular extrasystoles were also detected, with episodes of supraventricular tachycardia of three complexes, infrequent ventricular extrasystoles and multiple sinus pauses, the longest lasting 11 020 ms, at 00.50 am, asymptomatic. [elsevier.pt]

• Lordosis

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

  But apart from lordosis, he also walked with both elbows bent. He gave every appearance of a cowboy in a Western movie, who strolls out with both hands resting on his revolvers! [ambassadors.net]

  By the early teens, waddling gait with increased lumbar lordosis was marked and weakness of the shoulder girdle musculature appeared later. [genome.jp]

• Arthritis

  Arthritis Rheum. 2007 May 15. 57(4):694-702. [Medline]. Klopstock T, Querner V, Schmidt F, Gekeler F, Walter M, Hartard M, et al. A placebo-controlled crossover trial of creatine in mitochondrial diseases. Neurology. 2000 Dec 12. 55(11):1748-51. [emedicine.medscape.com]

• Diffuse Muscle Wasting

  Only one patient has been described who had early onset contractures and subsequent diffuse muscle wasting. There was no reported heart disease by 40 years of age. [emerydreifussmd.org]

• 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]

  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]

  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]

• Poor Coordination

  Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form. [genecards.org]

• 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]

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]

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

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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

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

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

(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]

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

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]

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