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Muscular Dystrophy-Dystroglycanopathy Type B6

Congenital Muscular Dystrophy Type 1D


Presentation

  • […] 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]
  • Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement.[yonsei.pure.elsevier.com]
  • Herein, we present these findings in two cases of adult-onset DM1 of siblings of nonconsanguineous parents.[jbsr.be]
  • Laminin alpha-2 negative congenital muscular dystrophy (MDC1A) presenting with a mild phenotype. Neurology. 2004;63:1118–21.[link.springer.com]
Inflammation
  • 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]
  • Some LGMDs, especially the calpainopathies, show also interstitial inflammation, including eosinophils, and may be confused with inflammatory myopathy.[neuropathology-web.org]
  • Another possible avenue being considered for the development of therapies includes drugs that reduce inflammation and ‘fibrosis’ or scarring in the muscles which is thought to be a major contributor to the muscle weakness in CMD.[mda.org.au]
  • Inflammation and response to steroid treatment in limb girdle muscular dystrophy 2I.[ncbi.nlm.nih.gov]
Short Stature
  • Individuals affected by the unique mutation also have a short stature, intellectual disabilities, and cataracts.[musculardystrophynews.com]
Constipation
  • Constipation/diarrhea : Most children with MMD experience constipation alternating with diarrhea. Constipation and diarrhea are easier to treat if caught early; bowel history should be part of every medical home visit.[medicalhomeportal.org]
  • Bladder control usually improves, however bowel problems – especially constipation – may persist, owing to problems with the muscle of the bowel wall.[musculardystrophyuk.org]
  • The following are appropriate: Stretching exercises to prevent contractures Positive-pressure hyperinsufflation pulmonary exercises to enhance thoracic growth and reduce thoracic cage rigidity and contractures Medications such as laxatives to prevent constipation[ncbi.nlm.nih.gov]
Tachycardia
  • […] and Fibrillation in Normal Hearts 473 CHAPTER 46 Mechanisms of Ischemic Ventricular Fibrillation 483 CHAPTER 47 Insight into Mechanisms of Ventricular Tachycardia from Isolated Wedge Preparations 491 CHAPTER 48 Mechanisms of Defibrillation 499 PART VIII[books.google.de]
Hip Dislocation
  • dislocation and a type of curvature of the spine known as ’kyphoscoliosis’.[santhera.com]
  • Pros and cons of surgery for hip dislocation or joint contractures need to be considered given that any functional benefit may be insignificant compared to the high risk of pain and rapid relapse.[ncbi.nlm.nih.gov]
Fracture
  • Loss of the integrity of this network causes stress fractures of the sarcolemma to develop during muscle contraction. Influx of calcium through these breaks activates proteolytic enzymes leading to autodigestion of the sarcoplasm ( myonecrosis ).[neuropathology-web.org]
Osteoporosis
  • Weight-bearing activities help prevent osteoporosis, allow full lung expansion, stretch hamstrings, and allow children to be on-level with peers.[medicalhomeportal.org]

Workup

  • 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]

Treatment

  • 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]
  • […] strength 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]

Prognosis

  • 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]

Etiology

  • 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: (accessed 20 September 2016, published 29 March 2016). Di Costanzo, A , Di Salle, F , Santoro, L , Tessitore, A , Bonavita, V and Tedeschi, G (2002).[jbsr.be]
  • Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.[ncbi.nlm.nih.gov]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]

Prevention

  • 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]

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