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      Outcome Measures for COL6 and LAMA2-Related Dystrophies

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      Author(s): , MD 1 , 2 , , MD 1 , 2 , *
      Publication date (Electronic, pub):
      Publication date (Electronic, collection):
      Journal: Pediatric Neurology Briefs
      Publisher: Pediatric Neurology Briefs Publishers
      Keywords: LAMA2-Related Dystrophies, COL6-Related Dystrophies, Muscular Dystrophy

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          Abstract

          Investigators from the NIH performed a longitudinal, prospective, natural history study looking at patients with COL6-related dystrophies ( COL6-RDs) and LAMA2-related dystrophies ( LAMA2-RDs), the two most common congenital muscular dystrophies (CMDs).

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          The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.

          Debra Morgan, Mark I. Wilkinson, David Jones … (2001)
          Initial reports of patients with laminin alpha2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle weakness, inability to achieve independent ambulation, markedly raised creatine kinase, and characteristic white matter hypodensity on cerebral magnetic resonance imaging. We report a series of five patients with laminin alpha2 deficiency, only one of whom has this severe classical CMD phenotype, and review published reports to characterise the expanded phenotype of laminin alpha2 deficiency, as illustrated by this case series. While classical congenital muscular dystrophy with white matter abnormality is the commonest phenotype associated with laminin alpha2 deficiency, 12% of reported cases have later onset, slowly progressive weakness more accurately designated limb-girdle muscular dystrophy. In addition, the following clinical features are reported with increased frequency: mental retardation (~6%), seizures (~8%), subclinical cardiac involvement (3-35%), and neuronal migration defects (4%). At least 25% of patients achieve independent ambulation. Notably, three patients with laminin alpha2 deficiency were asymptomatic, 10 patients had normal MRI (four with LAMA2 mutations reported), and between 10-20% of cases had maximum recorded creatine kinase of less than 1000 U/l. LAMA2 mutations have been identified in 25% of cases. Sixty eight percent of these have the classical congenital muscular dystrophy, but this figure is likely to be affected by ascertainment bias. We conclude that all dystrophic muscle biopsies, regardless of clinical phenotype, should be studied with antibodies to laminin alpha2. In addition, the use of multiple antibodies to different regions of laminin alpha2 may increase the diagnostic yield and provide some correlation with severity of clinical phenotype.
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            Natural history of Ullrich congenital muscular dystrophy.

            Rafael C. Jimenez, M Kinali, A Aloysius … (2009)
            To describe the course, complications, and prognosis of Ullrich congenital muscular dystrophy (UCMD), with special reference to life-changing events, including loss of ambulation, respiratory insufficiency, and death. Review of the case notes of 13 patients with UCMD, aged 15 years or older at last visit, followed up at a tertiary neuromuscular centre, London, UK, from 1977 to 2007. Data collected were age at onset of symptoms, presenting symptoms, mobility, contractures, scoliosis, skin abnormalities, respiratory function, and feeding difficulties. The mean age at onset of symptoms was 12 months (SD 14 months). Eight patients (61.5%) acquired independent ambulation at a mean age of 1.7 years (SD 0.8 years). Nine patients (69.2%) became constant wheelchair users at a mean age of 11.1 years (SD 4.8 years). Three patients continued to ambulate indoors with assistance. Forced vital capacity (FVC) values were abnormal in all patients from age 6 years. The mean FVC (% predicted) declined at a mean rate of 2.6% (SD 4.1%) yearly. Nine patients (69.2%) started noninvasive ventilation at a mean age of 14.3 years (SD 5.0 years). Two patients died of respiratory insufficiency. In Ullrich congenital muscular dystrophy (UCMD), the decline in motor and respiratory functions is more rapid in the first decade of life. The deterioration is invariable, but not always correlated with age or severity at presentation. This information should be of help to better anticipate the difficulties encountered by patients with UCMD and in planning future therapeutic trials in this condition.
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              Congenital muscular dystrophy: from muscle to brain

              Raffaele Falsaperla, Andrea D Praticò, Martino Ruggieri … (2016)
              Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis. In this article, the Authors report on CMDs belonging to the group of dystroglycanopathies and in particular on the most severe forms represented by the Fukuyama CMD, Muscle-Eye-Brain disease and Walker Walburg syndrome. Clinical diagnosis of infantile hypotonia is particularly difficult considering the different etiologic factors causing the lesions, the difficulty in localizing the involved CNS area (central vs. peripheral) and the limited role of the diagnostic procedures at this early age. The diagnostic evaluation is not easy mainly in differentiating the various types of CMDs, and represents a challenge for the neonatologists and pediatricians. Suggestions are reported on the way to reach a correct diagnosis with the appropriate use of the diagnostic means.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Pediatr Neurol Briefs
                Journal ID (iso-abbrev): Pediatr Neurol Briefs
                Journal ID (issn): 1043-3155
                Journal ID (pmc): pedneurbriefs
                Journal ID (publisher-id): Pediatr Neurol Briefs
                Title: Pediatric Neurology Briefs
                Publisher: Pediatric Neurology Briefs Publishers (Chicago, IL, USA )
                ISSN (Print): 1043-3155
                ISSN (Electronic): 2166-6482
                Publication date (Electronic, pub): 04 December 2020
                Publication date (Electronic, collection): 2020
                Volume: 34
                Page: 15
                Affiliations
                [1 ]Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL
                [2 ]Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL
                Author notes
                [* ]Correspondence: Dr. Nancy L. Kuntz, E-mail: nkuntz@ 123456luriechildrens.org
                Article
                Publisher ID: PNB-34-15
                DOI: 10.15844/pedneurbriefs-34-15
                PMC ID: 7718097
                SO-VID: 21f260c8-dc75-4071-bef7-19b7de1b1159
                Copyright © Copyright: © 2020 The Author(s)
                License:

                This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 01 April 2020
                Date accepted : 26 November 2020
                Related
                Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies
                Categories
                Subject: Neuromuscular Disorders
                Subject: Neurology
                Subject: Pediatrics
                Subject: Nervous System Diseases
                Subject: Child Development
                Subject: Brain Diseases
                Subject: Neurosurgery
                Subject: Child
                Subject: Infant

                Keywords: lama2-related dystrophies,col6-related dystrophies,muscular dystrophy
                Data availability:
                Keywords: lama2-related dystrophies, col6-related dystrophies, muscular dystrophy

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