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Congenital Merosin-Positive Muscular Dystrophy


Presentation

  • Abstract Merosin-positive congenital muscular dystrophy is a heterogenous group of disorders with varying clinical presentations and severity. In general, central nervous system involvement is not present.[ncbi.nlm.nih.gov]
  • Its main clinical presentation includes muscle weakness, hypotonia and dystrophic changes on skeletal muscle biopsy. All of them are present at birth or within the first 6 months of life3.[tiptiktak.com]
Neck Muscle Weakness
  • It usually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: 0001388 Mildly elevated creatine kinase 0008180 Myopathy Muscle tissue disease 0003198 Neck muscle weakness Floppy neck 0000467 Neonatal hypotonia[rarediseases.info.nih.gov]
Reduced Fetal Movement
  • Onset is often at birth with congenital proximal contractures and arthrogryposis caused by reduced fetal movements, hypotonia, and early hyperlaxity of distal joints (Figure 18.6). Knee contractures may limit walking in some.[academlib.com]
  • In this manner, only selected infants will need further investigation with imaging techniques. top contents next Reduced fetal movements, breech presentation and polyhydramnios are frequently observed in children with weakness with onset in utero.[mrineonatalbrain.com]
  • Prenatal, neonatal and perinatal assessment The assessment should include a detailed pedigree and documentation of prenatal risk factors: a history of drug or teratogen exposure, breech presentation, reduced fetal movements and presence of polyhydramnios[mafiadoc.com]
Psychomotor Retardation
  • […] to thrive Axial hypotonia Psychomotor retardation Seizures Enzyme assay for dolichyl-PGlc:Man9GlcNAc2-PPdolichyl glucosyltransferase Isoelectric focusing of transferrin AD (Autosomal dominant), AR (Autosomal recessive). consequences for cell function[mafiadoc.com]
Absent Deep Tendon Reflex
  • Fax: 91 022 24143435; E-mails: muranjanmamta@rediffmail.com, geneticist@gsmc.edu Abstract: An 18-month-old infant who presented with delayed motor development, hypotonia and absent deep tendon reflexes and normal cognitive development was diagnosed to[content.iospress.com]
  • The presence of tongue fasciculation and absent deep tendon reflexes, mild contractures and decreased fetal movements before birth complete the clinical picture.[mafiadoc.com]
Behavior Problem
  • Those with CMD subtypes with central nervous system involvement require surveillance for possible seizures and/or behavioral problems.[ncbi.nlm.nih.gov]
Poor Spontaneous Movements
  • Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity.[ncbi.nlm.nih.gov]

Workup

  • "Congenital Muscular Dystrophy Workup: Laboratory Studies, Imaging Studies, Other Tests". emedicine.medscape.com. Retrieved 2016-04-28. 1 2 "Congenital muscular dystrophy". Guidelines American Academy of Neurology. 2015. Retrieved 28 April 2016.[ipfs.io]
  • 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

  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Treatment - Muscular dystrophy- congenital- merosin-positive Not supplied. Resources - Muscular dystrophy- congenital- merosin-positive Not supplied.[checkorphan.org]
  • The types of seizures, electroencephalogram changes and common treatment regimens have not been characterized.[clinicaltrials.gov]
  • We will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual.[cmdir.org]

Prognosis

  • Diagnosis - Muscular dystrophy- congenital- merosin-positive Cold & Flu: Testing: Fever Tests Ear Infection Tests Flu Tests Prognosis - Muscular dystrophy- congenital- merosin-positive Not supplied.[checkorphan.org]
  • While congenital myopathy and muscular dystrophy both have much of the same skeletal muscle weakness, they are, in fact, quite different in terms of progression and long-term prognosis.[healthery.com]
  • AFO • PROGNOSIS:- The condition is usually fairly stable as far as the muscle power in the legs and arms is concerned, and often the child appears to gain strength in the first decade of life.[mobilephysiotherapyclinic.in]
  • 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]
  • Recognition and management of feeding problems is important, resulting in improved quality of life and probably affecting prognosis. Acknowledgments This work was supported by the Muscular Dystrophy Group of Great Britain and Northern Ireland.[adc.bmj.com]

Etiology

  • 結節性硬化症 Tuberous sclerosis complex (TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159.[cell.brc.riken.jp]
  • Prenatal diagnosis can be made by immunocytochemical studies of chorionic villous samples and genetic linkage analysis. [9] Remarkable progress has been made towards the elucidation of the molecular etiology underlying this disease using animal models[neurologyindia.com]
  • Etiological considerations 3.4. Biochemical studies 4.1.[mafiadoc.com]
  • The exact genetic mutation and etiology has not been found. Merosin positive CMD is a nonspecific diagnosis; because of this, persons with Merosin positive CMD may have a variable presentation.[disabled-world.com]
  • Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.[ncbi.nlm.nih.gov]

Epidemiology

  • The only epidemiological study of the CMD's comes from a study in northern Italy, which placed disease prevalence at 8 x 106 (Mostacciulo ML, et al, 1996).[disabled-world.com]
  • Mostacciuolo ML, Miorin M, Martinello F, Angelini C, Perini P, Trevisan CP: Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet 1996;97:277–279.[karger.com]
  • 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]
  • Epidemiology Frequency International An Italian study identified mutations in 220 of 336 patients (65.5%).[emedicine.medscape.com]
  • Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet. 1996; 97 :277–9. [ PubMed : 8786062 ] Muntoni F, Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • 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

  • Prevention - Muscular dystrophy- congenital- merosin-positive Not supplied.[checkorphan.org]
  • […] 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]
  • Unlike merosin-deficient CMD, merosin positive CMD does not prevent the individual from learning how to stand and walk.[healthery.com]
  • Laminin alpha 2 plays a role in myogenesis, promoting myotube stability by preventing apoptosis. [6] Mutations of the laminin alpha 2 gene induce the formation of abnormal laminins, which disturb the assembly and stability of the laminin network resulting[neurologyindia.com]
  • He also has a stander that he uses once a day between 30 minutes to 1 hour to stretch and strengthen his muscles and bones and help prevent contractures and scoliosis. SOPHIE Sophie was a quiet baby with very little crying and seemed very floppy.[helpsam.info]

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