Congenital muscular dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency

Reed, Umbertina Conti; Marie, Suely Kazue Nagahashi; Vainzof, Mariz; Salum, Paulo B.; Levy, José Antônio; Zatz, Mayana; Diament, Aron Judka

doi:10.1016/0387-7604(95)00095-x

Cited by 23 publications

(13 citation statements)

References 29 publications

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“…Its expression influences the peripheral myelinogenesis 83 . however, peripheral motor nerves involvement has not been found in Brazilian children with MDC 1A 84,85 and this fact might be due to the type and location of the mutation 84 .…”

Section: Merosin-deficient Congenital Muscular Dystrophy: Mdc1amentioning

confidence: 96%

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Reed

2009

Arq. Neuro-Psiquiatr.

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-The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscleeye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex.Key WorDs: congenital muscular dystrophy, MDC1A, collagen VI related disorders, glycosylation of alphadystroglycan, Fukuyama DMC, muscle-eye-brain (MeB) disease, Walker-Warburg syndrome, rigid spine syndrome. distrofia muscular congênita. parte ii: revisão da patogênese e perspectivas terapêuticas resumo -As distrofias musculares congênitas (DMCs) são miopatias hereditárias geralmente, porém não exclusivamente, de herança autossômica recessiva, que apresentam grande heterogeneidade genética e clínica. são caracterizadas por hipotonia muscular congênita, atraso do desenvolvimento motor e fraqueza muscular de início precoce associada a padrão distrófico na biópsia muscular. o quadro clínico, de gravidade variável, pode também incluir anormalidades oculares e do sistema nervoso central. A partir de 1994, os conhecimentos sobre genética e biologia molecular das DMCs progrediram rapidamente, sendo a classificação continuamente atualizada. os aspectos clínicos e diagnósticos dos principais subtipos de DMC foram apresentados no número anterior deste periódico, como primeira parte desta revisão. Nesta segunda parte apresentaremos os principais mecanismos patogênicos e as perspectivas terapêuticas dos subtipos mais comuns de DMC: DMC tipo 1A com deficiência de merosina, DMCs relacionadas com alterações do colágeno VI (Ullrich e Bethlem), e DMCs com anormalidades de glicosilação da alfa-distroglicana (DMC Fukuyama, DMC "Muscle-eye-brain" ou MeB, síndrome de Walker Warburg, DMC tipo 1C, DMC tipo 1D). A DMC com espinha rígida, mais rara e não relacionada com alterações do complexo distrofina-glicoproteínas associadas-matriz extracelular também será abordada quanto aos mesmos aspectos patogênicos e terapêuticos.PAlAVrAs-ChAVes: distrofia muscular congênita, merosina, colágeno VI, glicosila...

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Section: Merosin-deficient Congenital Muscular Dystrophy: Mdc1amentioning

confidence: 96%

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Reed

2009

Arq. Neuro-Psiquiatr.

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“… 2-150 References 4, 5, 6, 7, 9, 11, 12, 13, 14, 15, 16, 18, 20, 21,22, 23, 24, 25, 26, 27, 29, 30, 31, 32, 33, 34, 35, 36, 44, 48, 50, 52,57, 58, 59, 61, 62, 63, 64, 65, 66, 67. 2-151 Figures are expressed as a proportion of those in which the feature is specifically reported. Progression of weakness was not specifically reported.…”

Section: Review Of Published Reportsmentioning

confidence: 99%

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

Jones

Morgan²,

Johnston³

et al. 2001

Journal of Medical Genetics

153

110

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Initial reports of patients with laminin 2 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 2 deficiency, only one of whom has this severe classical CMD phenotype, and review published reports to characterise the expanded phenotype of laminin 2 deficiency, as illustrated by this case series. While classical congenital muscular dystrophy with white matter abnormality is the commonest phenotype associated with laminin 2 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 2 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 aVected by ascertainment bias. We conclude that all dystrophic muscle biopsies, regardless of clinical phenotype, should be studied with antibodies to laminin 2. In addition, the use of multiple antibodies to diVerent regions of laminin 2 may increase the diagnostic yield and provide some correlation with severity of clinical phenotype. (J Med Genet 2001;38:649-657)

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“…Os pacientes merosina-negativa apresentam fenótipo característi-co 20,21,24,26 : dismorfismo e debilidade facial bilateral (Figura 4), pálato ogival, hipotonia muscular acentuada e difusa, com fraqueza muscular geralmente grau três, retrações fibrotendíneas generalizadas e precoces, atrofia muscular intensa com cifoescoliose, CPK moderadamente ou acentuadamente aumentada, inteligência normal ou limí-trofe e exames neurorradiológicos mostrando alteração difusa, raramente focal, da substância branca cerebral. No RN, pode ocorrer dificuldade alimentar e respiratória, e, no primeiro ano de vida, evidencia-se grave hipotonia muscular e atraso do desenvolvimento motor, sendo a máxima habilidade alcançada a de sentar sem apoio.…”

Section: Tabela 7 -Classificação Da Distrofia Muscular Congênitaunclassified

Doenças neuromusculares

Reed¹

2002

J. Pediatr. (Rio J.)

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ResumoObjetivo: apresentar os dados essenciais para o diagnóstico diferencial entre as principais doenças neuromusculares, denominação genérica sob a qual agrupam-se diferentes afecções, decorrentes do acometimento primário da unidade motora (motoneurônio medular, raiz nervosa, nervo periférico, junção mioneural e músculo). Fontes dos dados:os aspectos clínicos fundamentais para estabelecer o diagnóstico diferencial entre as diferentes doenças neuromusculares, bem como entre estas e as causas de hipotonia muscular secundária ao comprometimento do sistema nervoso central ou a doenças sistêmicas não-neurológicas, são enfatizados, com base na experiência clínica vinda do atendimento a crianças com doenças neuromusculares durante os últimos 12 anos, no ambulató-rio de doenças neuromusculares do Hospital das Clínicas da Faculdade de Medicina, da Universidade de São Paulo. A revisão bibliográfica foi efetuada através do Medline e do periódico Neuromuscular Disorders, publicação oficial da World Muscle Society. Síntese dos dados: nas crianças, a maior parte destas afecções é geneticamente determinada, sendo as mais comuns a distrofia muscular progressiva ligada ao sexo, de Duchenne, a amiotrofia espinal infantil, a distrofia muscular congênita, a distrofia miotônica de Steinert, e as miopatias congênitas, estruturais e não estruturais. Polineuropatias hereditárias, síndrome miastênica congênita e miopatias metabólicas são menos comuns, porém mostram correlação geno-fenotípica cada vez mais precisa.Conclusões: na década passada, inúmeros avanços da genética molecular facilitaram imensamente o diagnóstico e o aconselhamento genético das doenças neuromusculares mais comuns das crianças, inclusive possibilitando diagnóstico fetal e, adicionalmente, vieram permitir melhor caracterização fenotípica e classificação mais objetiva.J Pediatr (Rio J) 2002; 78 (Supl.1): S89-S103: doenças neuromusculares em crianças, amiotrofia espinal infantil, síndrome miastênica congênita, distrofias musculares, miopatias congênitas, miopatias metabólicas. AbstractObjective: to discuss the most important aspects for the performance of a differential diagnosis among the main neuromuscular disorders in children, which include diseases affecting the motor unity, i.e. spinal motor neurons, peripheral nerves, neuromuscular junction and muscular fibers. Conclusions: due to the phenomenal development in human molecular genetics the pathogenesis of several neuromuscular disorders in children has been clarified over the last decade. Nowadays many new diagnostic methods, including techniques of fetal diagnosis, and a more objective genotype-phenotype correlation as well as classification are available.J Pediatr (Rio J) 2002; 78 (Supl.1): S89-S103: neuromuscular disorders of children, spinal muscular atrophy, congenital myastenic syndromes, muscular dystrophy, congenital myopathies, metabolic myopathies. Doenças neuromusculares Neuromuscular disordersUmbertina C. Reed* * Professora Associada do Departamento de Neurologia e Chefe da Disciplina de Neurologia...

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Congenital muscular dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency

Cited by 23 publications

References 29 publications

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

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

Doenças neuromusculares

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