[…] be present as well. [en.wikipedia.org]

(A) 1–3: Lower leg muscle MRI presenting PT, SO, GA, and AT fatty infiltration and edema. (B) 1–3: Thigh muscle MRI presenting VI, VM, VL, BF, AM, ST and SB atrophy and fatty infiltration. VM and VL present edema. [spandidos-publications.com]

Herein, we present these findings in two cases of adult-onset DM1 of siblings of nonconsanguineous parents. [jbsr.be]

Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. [yonsei.pure.elsevier.com]

Laminin alpha-2 negative congenital muscular dystrophy (MDC1A) presenting with a mild phenotype. Neurology. 2004;63:1118–21. [link.springer.com]

• Asymptomatic

  Heterozygotes (carriers) are asymptomatic. [ncbi.nlm.nih.gov]

  Even if asymptomatic, they often show mild elevation of CK and subtle changes in the muscle biopsy. DMD patients have also cognitive impairment and behavioral abnormalities. Dystrophin is present in cortical neurons and Purkinje cells. [neuropathology-web.org]

  Visits with a cardiologist and annual EKGs are recommended to detect asymptomatic arrhythmias. [ Bassez: 2004 ] [ Groh: 2012 ] Specialty Collaborations & Other Services Pediatric Cardiology (see Services below for local providers) Clinicians should refer [medicalhomeportal.org]

  In addition to the LGMD phenotype (1C), possible presentations include asymptomatic elevation of blood levels of creatine kinase, 110 myalgias, 111 rippling muscle disease, 49 and distal myopathy. 112 The latter phenotypes appear to be the more common [jamanetwork.com]

• Turkish

  Aims: The purpose of this study is to determine clinical and genetic results in five Turkish patients with MDC1A. Setting and Designs: Five children with MDC1A were retrospectively analyzed. Results: Three (60%) were boys, and 2 (40%) were girls. [pediatricneurosciences.com]

  Tan et al. (1997) described a large Turkish family with a clear LGMD phenotype which was linked to the LAMA2 locus on 6q22-23 (patients had a reduced laminin-alpha2 expression in a skeletal muscle biopsy). [dmd.nl]

  A few cases have been described in Turkish and English families. LGMD 2L (fukutin) Childhood There is deterioration of weakness with viral infections. May have cardiac and respiratory involvement. [patient.info]

• Pallor

  In individuals with milder manifestations of a dystroglycanopathy, high myopia or optic disc pallor may be the only ocular manifestation. [ncbi.nlm.nih.gov]

  […] to severe congenital muscular dystrophy and brain malformation such as lissencephaly II–pachygyria and cerebellopontine hypoplasia, this syndrome presents with more severe ocular abnormalities including severe congenital myopia, congenital glaucoma, pallor [jamanetwork.com]

• Short Stature

  Individuals affected by the unique mutation also have a short stature, intellectual disabilities, and cataracts. [musculardystrophynews.com]

• Myopathy

  Congenital Myopathies Central Core Myopathy Congenital fibre-type disproportion myopathy Minicore (Multicore) myopathy Myotubular or Centronuclear myopathy Nemaline myopathy 4. Mitochondrial Myopathies 5. [mdi.ie]

  Congenital myopathies and congenital muscular dystrophies are the subjects of this chapter. [mhmedical.com]

  2 Synonyms: IBM2, Inclusion body myopathy, autosomal recessive, Inclusion body myopathy, quadriceps-sparing, QSM, Hereditary inclusion body myopathy, HIBM, Distal myopathy with rimmed vacuoles, DMRV, Nonaka myopathy, Rimmed vacuole myopathy, Quadriceps [rarediseases.info.nih.gov]

  Nemaline myopathy Nemaline myopathy. Clusters of rod bodies. Gomori trichrome. Nemaline myopathy Nemaline myopathy. EM. [neuropathology-web.org]

  […] onset AR 88 EMD 300384 Emery-Dreifuss muscular dystrophy type 1 XLR 6 FHL1 300163 Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing [centogene.com]

• Myopathic Facies

  She had contractures of elbow and knees, myopathic facies, and pectus carinatum. Intellectual and speech development was normal. Her serum CPK level was 1710 U/l. Echocardiogram was normal. [pediatricneurosciences.com]

  Hypotonia and myopathic facies may be present in such individuals, while contractures of joints may also be present. [en.wikipedia.org]

  Physical examination Physical examination presented myopathic facies and a single crease of the right palm, the latter also observed in her father. Her intellectual and language function was normal. [spandidos-publications.com]

  With time affected children develop typical myopathic facies and some develop external ophthalmoplegia and may appear to have an enlarged head with parents relaying difficulty in pulling T-shirts over the head. [ncbi.nlm.nih.gov]

• Confusion

  Une telle attitude peut créer la confusion en rapprochant des maladies fondamentalement différentes. Arbitrairement — et traditionnellement — ne sont envisagés que deux groupes dont le pronostic diffère en tous points. [link.springer.com]

  There are approximately 30 other neuromuscular disorders that are often confused with muscular dystrophy, because they also cause muscle weakness. [betterhealth.vic.gov.au]

  Some LGMDs, especially the calpainopathies, show also interstitial inflammation, including eosinophils, and may be confused with inflammatory myopathy. [neuropathology-web.org]

• Neonatal Hypotonia

  CMs are rare, but they are important because they cause neonatal hypotonia. The differential diagnosis of neonatal hypotonia includes also perinatal asphyxia, metabolic disorders, congenital CNS abnormalities, and spinal muscular atrophy. [neuropathology-web.org]

  For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B. LGMD 2A - there is relative preservation of hip abductors and striking involvement of the posterior thigh muscles seen on MRI. [patient.info]

• Global Developmental Delay

  Pearls & Alerts for Assessment MMD may present as global developmental delay In a child with an uneventful birth, early MMD may present as global developmental delay. [medicalhomeportal.org]

PMID 20301468. update 2012 ^ a b c "Congenital Muscular Dystrophy Workup: Laboratory Studies, Imaging Studies, Other Tests". emedicine.medscape.com. Retrieved 2016-04-28. ^ a b c "Congenital muscular dystrophy". [en.wikipedia.org]

Thus, proper recognition and delineation of clinical phenotypes remains the initial and most important step in initiating a workup that will ultimately establish a genetic diagnosis. Corresponding author and reprints: Carsten G. [jamanetwork.com]

A phase I trial (CALLISTO) is underway to evaluate its efficacy and safety in the treatment of pediatric and adolescent patients with CMD. You can find additional information on our ongoing trial program at the clinicaltrials.gov webpage. [santhera.com]

The CMDIR website also provides information about clinical trials, medical providers with expertise in diagnosis and treatment and list of institutions that perform genetic testing. [muscle.ca]

Treatment possibilities include medications to decrease saliva, botulinum toxin treatments (temporary), or surgery to block salivary ducts. [medicalhomeportal.org]

[…] after treatment with rituximab. [ 17 ] Complications and their management [ 2, 8 ] Complications vary, depending on the specific LGMD and on individual variations in the clinical picture. [patient.info]

Is there a treatment? There is currently no specific treatment for CMD but there are many things that can be done to manage the symptoms. [mda.org.au]

Genetic counselling provides information on the inheritance pattern, risks to other family members, and the ‘prognosis’ (likely outcome of the disorder). [mda.org.au]

Chronic pain can occur, and pain management should be part of care. [ 19 ] Prognosis This depends on the type of LGMD and whether there is cardiac or respiratory involvement. In general, all types of LGMD progress with time. [patient.info]

To date, data for all CMD subtypes are insufficient to make any firm genotype / phenotype correlations or to provide definitive prognosis or anticipatory guidance based on CMD subtype. [ncbi.nlm.nih.gov]

Prognosis Age of onset and severity of symptoms is variable. Mild presentation can involve cataracts and mild myotonia. Severe presentation can involve breathing issues, swallowing problems, or cardiac arrhythmias that are life-threatening. [medicalhomeportal.org]

The genetic etiologies of many, although not all, cases of congenital muscular dystrophies and congenital myopathies have been characterized. This genetic knowledge has revealed that later-onset variants exist for a number of subtypes. [mhmedical.com]

Myotonic dystrophy: Etiology, clinical features, and diagnosis. Available at: http://www.uptodate.com/contents/myotonic-dystrophy-etiology-clinical-features-and-diagnosis (accessed 20 September 2016, published 29 March 2016). [jbsr.be]

Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology. [ncbi.nlm.nih.gov]

Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme – The International Classification of Diseases is the international standard diagnostic tool for epidemiology, health management and clinical purposes. [wikivisually.com]

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016; 43(1):163-77. PMID: 26786644 Lemmers, RJ, et al. [invitae.com]

Other proteins involved include dystroglycan, fukutin-related protein, calpain, dysferlin and telethonin. [ 5 ] Epidemiology [ 2 ] The LGMDs individually are rare, with some forms reported in only a few families. [patient.info]

Fanin MDuggan DJMostacciuolo ML et al Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997;34:973-977. PubMed Google Scholar 98. [jamanetwork.com]

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997; 34 :973–7. [ PMC free article : PMC1051145 ] [ PubMed : 9429136 ] Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C. [ncbi.nlm.nih.gov]

Our results suggest that the pathophysiologic processes can be associated to the action of MMPs and BBB disruption and that the BBB breakdown is relevant to the perpetuation of brain inflammation and can be related to brain dysfunction observed in CMD1D [ingentaconnect.com]

Clocks 235 CHAPTER 24 Mechanisms of Atrioventricular Nodal Excitability and Propagation 249 CHAPTER 25 Intercellular Communication and Impulse Propagation 259 CHAPTER 26 Cardiac Myofibroblasts and Arrhythmogenesis 269 CHAPTER 27 Cardiac Alternans as a Pathophysiologic [books.google.de]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]

Mechanism [ edit ] In terms of the mechanism of congenital muscular dystrophy, one finds that though there are many types of CMD the glycosylation of α-dystroglycan and alterations in those genes that are involved are an important part of this conditions pathophysiology [en.wikipedia.org]

Pathophysiology The pathophysiology of the congenital muscular dystrophies depends on the specific genetic defect for each of the dystrophies and is discussed with each of the congenital muscular dystrophies below. [emedicine.medscape.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]

[…] such as laxatives to prevent constipation, medication for gastroesophageal reflux (GER), and oral caloric supplements as required Trunk bracing in those with severe axial or cervical hypotonia with spinal collapse to prevent severe spinal deformities [ncbi.nlm.nih.gov]

Early preventive care with frequent follow-ups as necessary is recommended. [medicalhomeportal.org]

Omigapil is thought to work by preventing cells dying and testing in a mouse model of MDC1A has shown that it may be able to reduce the severity of symptoms. [mda.org.au]

Management [ 2 ] There is no specific therapy for LGMD. [ 14 ] Nondrug treatment Physiotherapy to prevent contractures, using passive stretching, exercise therapy, ± orthoses. [ 15 ] Exercise - the role of exercise in LGMD is controversial, but guidelines [patient.info]