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]

[…] for the disease have been identified: EMD (encoding emerin); FHL1 (encoding FHL1), both causing X-linked EDMD 1,5–7 ; and LMNA (encoding lamin A and C), responsible for autosomal dominant EDMD (AD-EDMD) and autosomal recessive EDMD (AR-EDMD). 1,2,8 We present [elsevier.es]

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]

• Hemophilia A

  Due To Glucose Phosphate Isomerase Deficiency 1 Hemophagocytic Lymphohistiocytosis, Familial, 2 2 Hemophagocytic Lymphohistiocytosis, Familial, 3 2 Hemophagocytic Lymphohistiocytosis, Familial, 4 2 Hemophagocytic lymphohistiocytosis, Familial, 5 2 Hemophilia [preventiongenetics.com]

• Inflammation

  A repeat muscle biopsy from the right quadriceps was abnormal with variation in muscle fibre size, type 2 fibre atrophy and there was no evidence of inflammation ( Figure 1 ). [omicsonline.org]

  Therapies using compounds for providing patients with functional muscle proteins are combined with at least one adjunct compound for reducing inflammation, preferably for reducing muscle tissue inflammation, and/or at least one adjunct compound for improving [scinapse.io]

  Muscle biopsy usually demonstrates degeneration and regeneration of skeletal muscle fibers, with variations in the levels of inflammation and fibrosis. [now.aapmr.org]

  Muscle inflammation is recognized in dysferlinopathy and dysferlin is expressed in the immune cells. 4 Genetic basis of limb-girdle muscular dystrophies: the 2014 update Table 2. Autosomal recessive limb girdle muscular dystrophy. [archive.org]

  Pathological examination of heart tissue explanted during transplantation or obtained at autopsy from affected members of Families B, C, and E identified four-chamber dilatation, myocyte hypertrophy, and fibrosis without inflammation. [nejm.org]

• Difficulty Walking

  By the age of 10, he had difficulty walking and needed a wheelchair due to muscle retractions and weakness at the scapular belt and pelvic girdle; he also experienced loss of strength in the upper limbs (2/5) and lower limbs (3/5). [elsevier.es]

  Difficulty walking was prominent. She had to walk backwards when coming down the stairs when not wearing shoes. Lifting objects from the top shelf became very difficult and she also noted reduced grip strength in her hands. [omicsonline.org]

• Euthyroid

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

• Goiter

  Type VII 4 Glycogen Storage Disease Type X 3 Glycogen Storage Disease Type XI 2 Glycogen Storage Disease Type XII 2 Glycogen Storage Disease Type XIII 2 Glycogen Storage Disease Type XV 3 Glycogen Storage DiseaseType IXb 3 Gnathodiaphyseal Dysplasia 2 Goiter [preventiongenetics.com]

• 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]

• Tachycardia

  He developed ventricular tachycardias requiring the implantation of an automatic defibrillator. 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]

  Other abnormalities have also been described such as : paroxysmal atrial tachycardia, atrial fibrillation, atrial flutter, branch block, second degree AV block and ventricular tachycardia 4. [scielo.br]

  Electrophysiological mapping showed ventricular tachycardia originating in the right ventricle distrofoa. Continuing navigation will be considered as acceptance of this use. The condition was apparently not progressive. [e-sika.mobi]

  Patient F, who developed severe heart failure and showed unsustained ventricular tachycardia at 24-h Holter monitoring, received a biventricular upgrade of his pacemaker with clinical benefit at the time of last contact. [academic.oup.com]

• Positive Gower's Sign

  During his first year of life he experienced difficulty maintaining the position of his head due to cervical hyperextension; he displayed toe walking, frequent falls, and showed a positive Gowers sign. [elsevier.es]

  LGMDIC is characterized by an onset usually in the first decade, a mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. [archive.org]

  LGMD1C is characterized by an onset usually in the first decade, a mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. [docksci.com]

• Lordosis

  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]

  He presented with significant lumbar lordosis, a waddling gait without need of assistive devices and the Gower maneuver was positive. The deep tendon reflexes were diminished. The rest of the physical exam was normal. [thefreelibrary.com]

  […] normal strength in distal arms; LGMD2M FKTN / Fukutin Early childhood Very high Moderate Legs arms; mild to moderate facial involvement LGMD2N POMT2 / protein O-mannosyl transferase 2 Early childhood High Slow Calf hypertrophy; scapular winging; skeletal lordosis [now.aapmr.org]

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

• 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]

• Cesarean Section

  García-Baquero, “Anesthesia for cesarean section in a patient with Emery-Dreifuss muscular dystrophy,” Revista Espanola de Anestesiologia y Reanimacion, vol. 43, no. 8, pp. 288–290, 1996. [ 15 ] R. J. Aldwinckle and A. S. [oalib.com]

• Gowers Sign

  During his first year of life he experienced difficulty maintaining the position of his head due to cervical hyperextension; he displayed toe walking, frequent falls, and showed a positive Gowers sign. [elsevier.es]

  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]

  sign--a classical clinical finding in which the child with proximal weakness tries to get up from the floor, first rolling from the back to stomach, then spreading the legs apart ("tripoding") while pushing on the knees in order to get upright. [clevelandclinic.org]

  LGMDIC is characterized by an onset usually in the first decade, a mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. [archive.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]

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

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

  He was in his 50s and walked with a waddling gait. 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]

• 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 [revportcardiol.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]

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]

Therefore, prognosis for subjects carrying or at risk of carrying D4Z4 reduced alleles h ... [5wo.tatter.us]

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]

Disorders Muscles Genetic 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]