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]

[…] may present with cerebellar cysts (or cortical problems), microcephaly may be present as well. [mobilephysiotherapyclinic.in]

Whether or not there is a structural brain abnormality present, children may experience seizure activity. Laminin is also present in peripheral nerves, leading to peripheral neuropathy. [disabled-world.com]

• Disability

  […] dystrophy type 2K with microcephaly, intellectual disability, normal MRI LGMD2M = Limb-girdle muscular Dystrophy type 2M (no intellectual disability) LGMD2N = Congenital muscular dystrophy/limb-girdle muscular dystrophy type 2N (intellectual disability [ncbi.nlm.nih.gov]

  Some of the more rarer forms of CMD can result in significant learning disabilities. [mobilephysiotherapyclinic.in]

  They include weakness in muscle tone within the first year, deformed and rigid joints, spinal curvatures, seizures, eye involvement and intellectual disability. [en.wikipedia.org]

  Congenital Merosin-Deficient, also known as muscular dystrophy, congenital, due to partial lama2 deficiency,is related to congenital muscular dystrophy type 1a and cardiomyopathy, dilated, 1a,and has symptoms including ophthalmoplegia, intellectual disability [selfdecode.com]

• Swelling

  […] with progressive cognitive regression, bilateral divergent strabismus, normal muscular strength, tone and deep tendon reflexes, highest CK level 1589 UI/L, area of agyria in the occipital cortex on brain MRI, extensive white matter abnormalities and swelling [content.iospress.com]

• Cough

  In all three cases no cough reflex was triggered, indicating silent aspiration. [adc.bmj.com]

  She had caught a simple cold, but was too weak to fight it and she didn't have the coughing strength to clear her lungs. Oral antibiotics didn't work and she needed an intravenous to help her. [helpsam.info]

  Aspiration pneumonia and/or respiratory insufficiency may require assisted cough devices, supplemental oxygen, noninvasive ventilation, and/or mechanical ventilation via tracheostomy. [ncbi.nlm.nih.gov]

  の3歳時における半年寛解率は14%と低率であり,危険因子として,初診時の 1)RASTスコア2+以上, 2)卵又はミルクの食物除去負荷試験陽性, 3)入院治療の既往, 4)両親又は同胞の家族歴が挙げられた 小児予防接種外来におけるアレルギー徴候の陽性率 是松 聖悟, 福井 利法 小児科診療 60(9) 1515-1519 Sep 1997 予防接種外来を受診した健康小児66名(4ヵ月〜12歳3ヵ月,平均3.6±2.7歳)を対象に, 1)過去のアレルギー被診断率及びアレルギー徴候とよばれる, 2)coughing [researchmap.jp]

• 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]

  | top | contents | next > Reduced fetal movements, breech presentation and polyhydramnios are frequently observed in children with weakness with onset in utero. [mrineonatalbrain.com]

  A shortened umbilical cord and abnormal fetal presentation reflects poor fetal movement or immobility. [mafiadoc.com]

• Irritability

  From the 1 st month of life, the patient was hypotonic with poor intake, irritability, reduced spontaneous movements, and poor suction. Physical examination showed generalized muscle weakness and contractures of elbows, wrists, knees, and ankles. [pediatricneurosciences.com]

↑ "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]

More Symptoms of Muscular dystrophy, congenital, merosin-positive » Diagnosis See also related information on diagnosis: Diagnosis of Muscular Dystrophy Treatments See also the following treatment articles: Treatments for Muscular Dystrophy Causes See [familydiagnosis.com]

If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

Each disease is covered in a consistent, easy-to-follow format: basics (including signs and symptoms), diagnosis, treatment, medications, follow-up, and miscellaneous considerations (including diseases with similar characteristics, pregnancy, synonyms [books.google.com]

Treatment - Muscular dystrophy- congenital- merosin-positive Not supplied. Resources - Muscular dystrophy- congenital- merosin-positive Not supplied. [checkorphan.org]

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]

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]

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]

Neuromuscular disorders : NMD, 2016, Epub, p. 252-259 Laminin-α2 Chain-Deficient Congenital Muscular Dystrophy: Pathophysiology and Development of Treatment. [myobase.org]

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 - Muscular dystrophy- congenital- merosin-positive Not supplied. [checkorphan.org]

Unlike merosin-deficient CMD, merosin positive CMD does not prevent the individual from learning how to stand and walk. [healthery.com]

[…] 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]

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]