[…] 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]

• Short Stature

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

• Hyperkeratosis

  Additional symptoms may occur including breathing insufficiency and a skin condition characterized by thickening and hardening (hyperkeratosis) of hair follicles, resulting in the development of rough, elevated growths (papules) on the skin. [rarediseases.org]

  Clinically it is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints. 79 Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis [jamanetwork.com]

• Muscular Atrophy

  muscular atrophy type 2 Synonyms: SMA2, Muscular atrophy, spinal, intermediate type, Muscular atrophy, spinal, infantile chronic form, Spinal muscular atrophy type II, SMA II, Dubowitz disease Spinal muscular atrophy type 3 Synonyms: SMA3, Muscular atrophy [rarediseases.info.nih.gov]

  Serum creatinine kinase (CPK, also known as CK) levels may be mildly elevated in congenital muscular dystrophy, congenital myopathy, and sometimes even spinal muscular atrophy, although more dramatic elevations are more suggestive of congenital muscular [mhmedical.com]

  Spinal Muscular Atrophies - (SMA Factsheets taken from Jennifer Trust Website) Severe (Type I) Intermediate (Type II) Mild (Type III) Adult spinal muscular atrophy 9. [mdi.ie]

  A heterogeneous group of genetic disorders characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive. [icd10data.com]

• Hyperlaxity

  Results: There were eight boys and one girl child with classical features of severe muscle weakness, prominent proximal contractures, distal hyperlaxity and prominent calcanei. [neurologyindia.com]

  A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. [ncbi.nlm.nih.gov]

  Affected individuals may experience hypotonia, contractures, joint hyperlaxity, and scoliosis. In this form of CMD, intelligence has been unaffected and individuals retain the ability to walk into adulthood. [rarediseases.org]

  Ullrich first described the combination of joint hyperlaxity and proximal contractures in 1930 in the German literature; this was the first case of what is now known as Ullrich congenital muscular dystrophy. [emedicine.medscape.com]

• Proximal Muscle Weakness

  In addition to proximal muscle weakness, there may or may not be: Distal muscle weakness. Muscle hypertrophy. Contractures. Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.) [patient.info]

  The majority of patients are unable to run and jump adequately due to proximal muscle weakness, which also results in the use of the classic Gowers’ maneuver when arising from the floor. [news-medical.net]

  Background In 1903, Batten described 3 children who had proximal muscle weakness from birth. Biopsy of their muscles showed evidence of chronic myopathy without distinguishing characteristics. [emedicine.medscape.com]

  Often hypotonia and weakness of the axial-cervical muscles is rapidly progressive, followed by more slowly progressive weakness the proximal upper limbs and distal lower limbs. Facial muscles are spared. [ncbi.nlm.nih.gov]

• Torticollis

  In some cases, congenital dislocation of the hip, muscles spasms of the neck (torticollis), or lower bone density may develop. Affected individuals may also experience breathing (respiratory) difficulties and failure to thrive. [rarediseases.org]

  […] late-stage L-CMD and dystroglycanopathies Selective involvement of the spine: SELENON -related CMD; early in the course of laminin alpha-2 deficiency in children who are ambulatory; collagen VI-deficient CMD; L-CMD The presence of joint deformities, torticollis [ncbi.nlm.nih.gov]

• Lordosis

  Other muscles are poorly developed a waddling walk a sway-back (‘lordosis’) a tendency to stand and walk on the forefoot, with the heel off the ground. This is often called ‘toe-walking’. [betterhealth.vic.gov.au]

  The type and location of spinal deformity: Thoracic kyphosis: collagen VI-deficient CMD Thoracic lordosis: laminin alpha-2 deficiency, SELENON -related CMD, and L-CMD; late stage of dystroglycanopathies. [ncbi.nlm.nih.gov]

• 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]

• Neurologic Manifestation

  […] onset Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, severe perinatal form Niemann-Pick [se-atlas.de]

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]