Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Italian Journal of Pediatrics
Published in: Italian Journal of Pediatrics 1/2016

Open Access 01-12-2016 | Review

Congenital muscular dystrophy: from muscle to brain

Authors: Raffaele Falsaperla, Andrea D. Praticò, Martino Ruggieri, Enrico Parano, Renata Rizzo, Giovanni Corsello, Giovanna Vitaliti, Piero Pavone

Published in: Italian Journal of Pediatrics | Issue 1/2016

Login to get access

Abstract

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.
Literature
1.
2.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Members of International Standard of Care Committee for Congenital Muscular Dystrophies, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24:289–311.CrossRefPubMed
3.
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;97:277–9.CrossRefPubMed
4.
Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132:3175–86.CrossRefPubMedPubMedCentral
5.
Graziano A, Bianco F, D’Amico A, Moroni I, Messina S, Bruno C, et al. Prevalence of congenital muscular dystrophy in Italy: a population study. Neurology. 2015;84:904–11.CrossRefPubMedPubMedCentral
6.
Parano E, Fiumara A, Falsperla R, Vita G, Trifiletti RR. Congenital muscular dystrophy: correlation of muscle biopsy and clinical features. Pediatr Neurol. 1994;10:233–6.CrossRefPubMed
7.
Parano E, Pavone L, Fiumara A, Falsaperla R, Trifiletti RR, Dobyns WB. Congenital muscular dystrophies: clinical review and proposed classification. Pediatr Neurol. 1995;13:97–103.CrossRefPubMed
8.
Voit T, Tomè FM. The congenital muscular dystrophies. In: Engel AG, Franzini-Armstrong C, editors. Myology - basic and clinical. 3rd ed. New York: McGraw-Hill-Medical Publishing Division; 2004. p. 1203–38.
9.
Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015;84:1369–78.CrossRefPubMedPubMedCentral
10.
Reed UC. Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr. 2009;67:144–68.CrossRefPubMed
11.
Muntoni F, Brockington M, Blake DJ, Torelli S, Brown SC. Defective glycosylation in muscular dystrophy. Lancet. 2002;360:1419–21.CrossRefPubMed
12.
Muntoni F, Valero de Bernabe B, Bittner R, Blake D, van Bokhoven H, Brockington M, et al. 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). Neuromuscul Disord. 2003;13:579–88.CrossRefPubMed
13.
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009;72:1802–9.CrossRefPubMed
14.
Messina S, Bruno C, Moroni I, Pegoraro E, D’Amico A, Biancheri R, et al. Congenital muscular dystrophies with cognitive impairment. A population study. Neurology. 2010;75:898–903.CrossRefPubMed
15.
Fukuyama Y, Kawazura M, Haruna H. A peculiar form of congenital progressive muscular dystrophy. Paediat Univ Tokyo. 1960;4:5–8.
16.
Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 1993;5:283–6.CrossRefPubMed
17.
Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394:388–92.CrossRefPubMed
18.
Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations. Brain Dev. 1981;3:1–29.CrossRefPubMed
19.
Kamoshita S. Etiology of congenital muscular dystrophy (Fukuyama type). Nihon Rinsho. 1977;35:3929–35.PubMed
20.
Honda J, Yoshika M. Ophtalmological findings of muscular dystrophies: a survey of 53 cases. Pediatr Ophtalm Strab. 1978;15(4):236–8.
21.
Tsutsumi A, Uchida Y, Osawa M, Fukuyama Y. Ocular findings in Fukuyama type congenital muscular dystrophy. Brain Dev. 1989;11:413–9.CrossRefPubMed
22.
Barkovich AJ. Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 1998;19:1389–96.PubMed
23.
Santavuori P, Leisti J, Kruus S, et al. Muscle, eye and brain disease : a new syndrome. Docum Ophtal Proc Ser. 1978;17:393–6.
24.
Dambska M, Wisniewski K, Sher J, Solish G. Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebromuscular dystrophy. Clin Neuropathol. 1982;1:93–8.PubMed
25.
Korinthenberg R, Palm D, Schlake W, Klein J. Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families. Eur J Pediatr. 1984;142:64–8.CrossRefPubMed
26.
Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, et al. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Neurogenetics. 2007;8:279–88.CrossRefPubMed
27.
Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, et al. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003;12:527–34.CrossRefPubMed
28.
Yiş U, Uyanik G, Rosendahl DM, Carman KB, Bayram E, Heise M, et al. Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. Pediatr Neurol. 2014;50:491–7.CrossRefPubMed
29.
Falsaperla R, Giunta L, Lubrano R, Foti R, Vitaliti G. Long-term survival in a patient with muscle-eye-brain disease. Neurol Sci. 2015;36:2147–9.CrossRefPubMed
30.
Walker AE. Lissencephaly. Arch Neurol Psychiatry (Chicago). 1942;48:13–29.CrossRef
31.
Warburg M. Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. Am J Ophthalmol. 1978;85:88–94.CrossRefPubMed
32.
Pavone L, Gullotta F, Grasso S, Vannucchi C. Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant? Neuropediatrics. 1986;17:206–11.CrossRefPubMed
33.
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002;71:1033–43.CrossRefPubMedPubMedCentral
34.
Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989;32:195–210.CrossRefPubMed
35.
van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005;42:907–12.CrossRefPubMedPubMedCentral
36.
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007;130:2725–35.CrossRefPubMed
37.
Mercuri E, Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol. 2012;72:9–17.CrossRefPubMed
38.
39.
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001;10:2851–9.CrossRefPubMed
40.
Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet. 2001;69:1198–209.CrossRefPubMedPubMedCentral
41.
Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003;12:2853–61.CrossRefPubMed
42.
Voit T, Parano E, Straub V, Schröder JM, Schaper J, Pavone P, et al. Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. Neuromuscul Disord. 2002;12:623–30.CrossRefPubMed
43.
44.
45.
Chang–Yong T. Muscle Disease. Pediatrics in review. 2014;35:12.
46.
Gilbreath HR, Castro D, Iannaccone ST. Congenital myopathies and muscular dystrophies. Neurol Clin. 2014;32:689–703. viii.CrossRefPubMed
47.
Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol. 2012;11:891–905.CrossRefPubMed
48.
Wheeler TM, Leger AJ, Pandey SK, MacLeod AR, Nakamori M, Cheng SH, et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature. 2012;488:111–5.CrossRefPubMedPubMedCentral
Metadata
Title
Congenital muscular dystrophy: from muscle to brain
Authors
Raffaele Falsaperla
Andrea D. Praticò
Martino Ruggieri
Enrico Parano
Renata Rizzo
Giovanni Corsello
Giovanna Vitaliti
Piero Pavone
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2016
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/s13052-016-0289-9

Other articles of this Issue 1/2016

Italian Journal of Pediatrics 1/2016 Go to the issue

Research

Time trends of cancer incidence in childhood in Campania region: 25 years of observation

Case report

Neonatal lupus erythematosus: a cutaneous cases based update

Research

Effect of flick application on pain level and duration of crying during infant vaccination

Review

Cell therapies for pancreatic beta-cell replenishment

Research

Vitamin D deficiency and its impact on asthma severity in asthmatic children

Case report

Very early onset of autoimmune thyroiditis in a toddler with severe hypothyroidism presentation: a case report